We can analyze the mechanisms of child neurological diseases in different biological levels. Some diseases are involved typically in one of them, and others are involved in a recurrent way in several. However, grouping them into functional groups is useful for the analysis of their common elements and to promote their understanding from a biological point of view. <\/p>\n<\/div><\/figure><\/div>\n\n\n\n\nUniversal hearing screening.<\/div><\/summary>\n\nRisk factors for deafness.<\/div><\/summary>\nBiophysics. <\/p>\n\n\n\nBiostatistics.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\nSensorineural hearing loss.<\/div><\/summary>\n\nGenomics<\/a><\/div><\/summary>\nChildhood hearing loss. <\/p>\n\n\n\n\nLate-onset hearing loss. <\/li>\n\n\n\nNewborn screening. <\/li>\n<\/ul>\n\n\n\nThe genome of an individual is packaged in chromosomes, made of chromatin, which in turn is formed by the strands of DNA packaged around histones. The strands of DNA are formed by the combination of pairs of bases. <\/p>\n\n\n\n<\/figure>\n\n\n\nWe can classify the different diseases, genomic in:<\/p>\n\n\n\n\nAneuploidias and other errors cytogenetic<\/a>.<\/li>\n\n\n\nChromosomal rearrangements and CNVs.<\/a><\/li>\n<\/ul>\n\n\n\nAnd genetic diseases in:<\/p>\n\n\n\n\nPoint mutations and diseases monogen\u00e9ticas.<\/a><\/li>\n\n\n\nMutations dynamic and STRs.<\/a><\/li>\n\n\n\nDisorders of DNA repair. <\/li>\n\n\n\nTelomeres.<\/li>\n<\/ul>\n\n\n\nThere are multiple resources to consult the disease genomic and genetic, such as: <\/p>\n\n\n\n\nDecipher genome browser. <\/a><\/li>\n\n\n\nGeneReviews<\/a>.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\nEpigenomics<\/a><\/div><\/summary>\n\nWeaver syndrome (EED).<\/a> <\/li>\n\n\n\nEpigenetics and diseases caused by errors in imprinting<\/a>.<\/li>\n\n\n\nCromatinopat\u00edas.<\/a><\/li>\n\n\n\nMethylome and footprint epigenetics. <\/a><\/li>\n<\/ul>\n\n\n\n<\/figure>\n<\/div><\/details>\n\n\n\nTranscriptomics<\/a><\/div><\/summary>\n\n\n\t\t19955111<\/span>\n\t\tAngelman syndrome.<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 3246<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n\n\n\nThere are 2 processes related to RNA to allow the passage of the genetic information for the production of proteins. Are the transcription <\/a>and the translation<\/a>, among which there are several processes in which matures the RNAm from a pre-RNAm, known as mechanisms of modification, post-transcriptional<\/a>. Involving several molecules based on RNA, as RNA-t and the snRNA (ribonucleoproteins). There are also mechanisms of modification post-translation<\/a> of proteins. <\/p>\n\n\n\n\nTranscription. \n\nTranscriptopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-transcription.\n\nSpliceopatias.<\/a><\/li>\n\n\n\nAlternative Splicing.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\nTranslation.\n\nRibosomopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-translation. <\/li>\n<\/ul>\n\n\n\nNoncoding RNA.<\/a><\/p>\n\n\n\nIn cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Biophysics. <\/p>\n\n\n\n
Biostatistics.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\nSensorineural hearing loss.<\/div><\/summary>\n\nGenomics<\/a><\/div><\/summary>\nChildhood hearing loss. <\/p>\n\n\n\n\nLate-onset hearing loss. <\/li>\n\n\n\nNewborn screening. <\/li>\n<\/ul>\n\n\n\nThe genome of an individual is packaged in chromosomes, made of chromatin, which in turn is formed by the strands of DNA packaged around histones. The strands of DNA are formed by the combination of pairs of bases. <\/p>\n\n\n\n<\/figure>\n\n\n\nWe can classify the different diseases, genomic in:<\/p>\n\n\n\n\nAneuploidias and other errors cytogenetic<\/a>.<\/li>\n\n\n\nChromosomal rearrangements and CNVs.<\/a><\/li>\n<\/ul>\n\n\n\nAnd genetic diseases in:<\/p>\n\n\n\n\nPoint mutations and diseases monogen\u00e9ticas.<\/a><\/li>\n\n\n\nMutations dynamic and STRs.<\/a><\/li>\n\n\n\nDisorders of DNA repair. <\/li>\n\n\n\nTelomeres.<\/li>\n<\/ul>\n\n\n\nThere are multiple resources to consult the disease genomic and genetic, such as: <\/p>\n\n\n\n\nDecipher genome browser. <\/a><\/li>\n\n\n\nGeneReviews<\/a>.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\nEpigenomics<\/a><\/div><\/summary>\n\nWeaver syndrome (EED).<\/a> <\/li>\n\n\n\nEpigenetics and diseases caused by errors in imprinting<\/a>.<\/li>\n\n\n\nCromatinopat\u00edas.<\/a><\/li>\n\n\n\nMethylome and footprint epigenetics. <\/a><\/li>\n<\/ul>\n\n\n\n<\/figure>\n<\/div><\/details>\n\n\n\nTranscriptomics<\/a><\/div><\/summary>\n\n\n\t\t19955111<\/span>\n\t\tAngelman syndrome.<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 3246<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n\n\n\nThere are 2 processes related to RNA to allow the passage of the genetic information for the production of proteins. Are the transcription <\/a>and the translation<\/a>, among which there are several processes in which matures the RNAm from a pre-RNAm, known as mechanisms of modification, post-transcriptional<\/a>. Involving several molecules based on RNA, as RNA-t and the snRNA (ribonucleoproteins). There are also mechanisms of modification post-translation<\/a> of proteins. <\/p>\n\n\n\n\nTranscription. \n\nTranscriptopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-transcription.\n\nSpliceopatias.<\/a><\/li>\n\n\n\nAlternative Splicing.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\nTranslation.\n\nRibosomopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-translation. <\/li>\n<\/ul>\n\n\n\nNoncoding RNA.<\/a><\/p>\n\n\n\nIn cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Childhood hearing loss. <\/p>\n\n\n\n
The genome of an individual is packaged in chromosomes, made of chromatin, which in turn is formed by the strands of DNA packaged around histones. The strands of DNA are formed by the combination of pairs of bases. <\/p>\n\n\n\n<\/figure>\n\n\n\nWe can classify the different diseases, genomic in:<\/p>\n\n\n\n\nAneuploidias and other errors cytogenetic<\/a>.<\/li>\n\n\n\nChromosomal rearrangements and CNVs.<\/a><\/li>\n<\/ul>\n\n\n\nAnd genetic diseases in:<\/p>\n\n\n\n\nPoint mutations and diseases monogen\u00e9ticas.<\/a><\/li>\n\n\n\nMutations dynamic and STRs.<\/a><\/li>\n\n\n\nDisorders of DNA repair. <\/li>\n\n\n\nTelomeres.<\/li>\n<\/ul>\n\n\n\nThere are multiple resources to consult the disease genomic and genetic, such as: <\/p>\n\n\n\n\nDecipher genome browser. <\/a><\/li>\n\n\n\nGeneReviews<\/a>.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\nEpigenomics<\/a><\/div><\/summary>\n\nWeaver syndrome (EED).<\/a> <\/li>\n\n\n\nEpigenetics and diseases caused by errors in imprinting<\/a>.<\/li>\n\n\n\nCromatinopat\u00edas.<\/a><\/li>\n\n\n\nMethylome and footprint epigenetics. <\/a><\/li>\n<\/ul>\n\n\n\n<\/figure>\n<\/div><\/details>\n\n\n\nTranscriptomics<\/a><\/div><\/summary>\n\n\n\t\t19955111<\/span>\n\t\tAngelman syndrome.<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 3246<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n\n\n\nThere are 2 processes related to RNA to allow the passage of the genetic information for the production of proteins. Are the transcription <\/a>and the translation<\/a>, among which there are several processes in which matures the RNAm from a pre-RNAm, known as mechanisms of modification, post-transcriptional<\/a>. Involving several molecules based on RNA, as RNA-t and the snRNA (ribonucleoproteins). There are also mechanisms of modification post-translation<\/a> of proteins. <\/p>\n\n\n\n\nTranscription. \n\nTranscriptopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-transcription.\n\nSpliceopatias.<\/a><\/li>\n\n\n\nAlternative Splicing.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\nTranslation.\n\nRibosomopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-translation. <\/li>\n<\/ul>\n\n\n\nNoncoding RNA.<\/a><\/p>\n\n\n\nIn cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
We can classify the different diseases, genomic in:<\/p>\n\n\n\n
And genetic diseases in:<\/p>\n\n\n\n
There are multiple resources to consult the disease genomic and genetic, such as: <\/p>\n\n\n\n
There are 2 processes related to RNA to allow the passage of the genetic information for the production of proteins. Are the transcription <\/a>and the translation<\/a>, among which there are several processes in which matures the RNAm from a pre-RNAm, known as mechanisms of modification, post-transcriptional<\/a>. Involving several molecules based on RNA, as RNA-t and the snRNA (ribonucleoproteins). There are also mechanisms of modification post-translation<\/a> of proteins. <\/p>\n\n\n\n\nTranscription. \n\nTranscriptopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-transcription.\n\nSpliceopatias.<\/a><\/li>\n\n\n\nAlternative Splicing.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\nTranslation.\n\nRibosomopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\nPost-translation. <\/li>\n<\/ul>\n\n\n\nNoncoding RNA.<\/a><\/p>\n\n\n\nIn cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Noncoding RNA.<\/a><\/p>\n\n\n\nIn cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
In cis. <\/a><\/p>\n<\/div><\/details>\n\n\n\nProteomics<\/a><\/div><\/summary>\nThe proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
The proteinopathies<\/a> are all those genetic diseases that affect the coding regions of the DNA and produce the effect of the conformation of amino acid chains. Are excluded from this concept the diseases caused by RNA non-coding, or those caused by mutations that affect the amino acid sequence, for example. <\/p>\n\n\n\nHowever, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\nThere are 3 main groups of proteins. <\/p>\n\n\n\n\nFunctional proteins (enzymes). Its alteration leads to metabolic diseases (metabolopat\u00edas). Tend to have inheritance autosomal recessive (although not all)<\/a>. <\/li>\n\n\n\nStructural proteins. Its alteration leads to physical changes (phenotypic) microscopic (cell and tissue) or macroscopic. Tend to have autosomal dominant inheritance. <\/li>\n\n\n\nCell signaling and ligand-binding. Are structural proteins with a specific function, connected to the communication pathways extracellular and intracellular. There are receptors, channels and transporters, as well as neurotransmitters, hormones, and signaling cascades. They are especially important in the central nervous system, that has a system of intercellular communication-specific (synapses). <\/li>\n<\/ul>\n\n\n\nOn the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
However, within this chapter we will group the diseases depending on the type of protein that is affected. <\/p>\n\n\n\n
There are 3 main groups of proteins. <\/p>\n\n\n\n
On the web proteinatlas<\/a> you can check the histological expression of different proteins in the function of the tissue to be studied. <\/p>\n\n\n\n\nEnzimopat\u00edas.<\/a><\/div><\/summary>\nProgressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Progressive hearing loss. <\/p>\n\n\n\n<\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">Multiple mechanisms of alteration of the function of neurotransmitters.<\/figcaption><\/figure>\n\n\n\n<p>Beyond the <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">diseases of classic neurotransmitters<\/a>in the last few years have been discovered in other complex diseases related to the specific machinery of the synapse, and can be classified in function of their location in this structure: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presynaptic. Are those diseases that are caused by disruption of the synthesis, transport or fusion of the synaptic vesicle. An example is the encephalopathy secondary to a mutation of the <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-ca6eb53c1636ca79e87705dd34c35082\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsynaptic. Are those diseases associated with receptors dendritic. An example of this are <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Channelopathies.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"\/en\/A complete audiological assessment in ENT is mandatory, regardless of whether the newborn screening was normal.\/\">Commission for the Early Detection of Hearing Loss (CODEPEH). <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias intracellular molecular.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>The <a href=\"http:\/\/neuropediatoolkit.org\/en\/transportopatias\/\">transportopat\u00edas<\/a> are all those diseases arising from the malfunction of the membrane transporter proteins, a set of structures in the form of a canal to allow the passage through the membranes, both through the use of the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">active transport<\/a> as the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">passive transport<\/a> in favor of gradient, allowing and regulating the entry and exit of different compounds in the cell and the cell organelles. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>We can also classify them as a function of the substances transported, in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 single substance) or <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 substances in the same direction; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 substances in opposite directions). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>There are several resources to find information on membrane transporters, such as the <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">website of the international society of membrane transporter proteins<\/a>, or the web Bioparadigms, where it remains a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">log classification of all proteins SLC <\/a>discovered to date and their role, as well as the initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>for the research of treatments.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabolomics<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>There are multiple resources for the study of metabolic diseases, the most useful is the <a href=\"http:\/\/neuropediatoolkit.org\/en\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Are also interesting websites <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, where is available a diagram with all the metabolic pathways relevant, or the web <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), where information is available tabulizada on the metabolites, enzymes, and genes coding as well as diagrams of all the metabolic pathways, or the web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, an encyclopedia of the metabolism and the genes of the human being. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Amino acidopathies and diseases of the peptides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Diseases of carbohydrate metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Diseases of the metabolism of fatty acids, carnitine, and ketone bodies.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purines, pyrimidines, and nucleotides. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energy metabolism. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/en\/cdg-roadmap\/\">Disorders of glycosylation.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolism of neurotransmitters.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolism of vitamins and cofactors. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolism of trace elements and metals.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The micro level.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopathies.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 18w\" sizes=\"(max-width: 312px) 100vw, 312px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-c6ee93bf47d087c46ed3e1758c49c62d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:UA2FVAU9}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cytoskeleton<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mitochondrial diseases<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/en\/facies-tosca\/\">Lysosomal Diseases<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-peroxisomales\/\">Diseases, Peroxisomal<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>The macro level. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype macroscopic. Neuroanatomy.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/jerarquia-del-control-del-sistema-motor\/\">Hierarchy of the control of the motor system. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Myelopathies. <\/li>\n\n\n\n<li>Neuromuscular disorders.<ul><li>Polyneuropathies.<\/li><li>Myopathies.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Diseases of the neuromuscular junction. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype development (morphological). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embryology. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/en\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Phenotype functional neurological. Neuroscience.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS};{332710:39JDSXX6} <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>CODEPEH. Recommendations of the CODEPEH for the early diagnosis and intervention of childhood hearing loss. Anales de Pediatr\u00eda [Internet]. 2014 [cited 2022 Nov 23];81(4):244–52. Available from:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Family.<\/li>\n\n\n\n<li>Society.<\/li>\n\n\n\n<li>Embedded from Early detection of childhood hearing loss. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"It is necessary to perform periodic audiological follow-up in ENT until 3-5 years of age (even with normal newborn screening, for example, in case of congenital CMV infection).\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"\" sizes=\"(max-width: 1024px) 100vw, 1024px\" data-srcset=\"\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>","protected":false},"excerpt":{"rendered":"<p>Applied basic science. We can analyze the mechanisms of neuropediatric diseases at different biological levels. Some diseases are characteristically involved in one of them, and others recurrently participate in several. However, grouping them into functional groups is useful to analyze their common elements and promote their understanding from a biological point of view.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}