{"id":3246,"date":"2022-10-31T18:28:36","date_gmt":"2022-10-31T18:28:36","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?page_id=3246"},"modified":"2026-08-24T05:24:35","modified_gmt":"2026-08-24T05:24:35","slug":"laboratorio","status":"publish","type":"page","link":"https:\/\/neuropediatoolkit.org\/de\/laboratorio\/","title":{"rendered":"Lab"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Wie man ein Labor f\u00fcr p\u00e4diatrische Neurologie einrichtet.<\/h2>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-86043963\" 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>Wo soll ich anfangen? Tools, die dir das Leben erleichtern.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>KI und p\u00e4diatrische Neurologie. <\/li>\n\n\n\n<li>Docker und Containerverwaltung.<\/li>\n\n\n\n<li>WordPress.<\/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>Kennst du deine Diagnosetechniken?<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Vorhersage von Ergebnissen aus der Massensequenzierung. PredWES.<\/li>\n\n\n\n<li>Analyse der Genomabdeckung. <\/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>Nutzbare \u00f6ffentliche Datenbanken.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n\n\n<form role=\"search\" method=\"get\" action=\"https:\/\/neuropediatoolkit.org\/de\/\" class=\"wp-block-search__button-inside wp-block-search__icon-button wp-block-search\" data-trp-original-action=\"https:\/\/neuropediatoolkit.org\/de\/\" ><label class=\"wp-block-search__label screen-reader-text\" for=\"wp-block-search__input-1\" >Suchen<\/label><div class=\"wp-block-search__inside-wrapper\" ><input class=\"wp-block-search__input\" id=\"wp-block-search__input-1\" placeholder=\"\" value=\"\" type=\"search\" name=\"s\" required \/><button aria-label=\"Suchen\" class=\"wp-block-search__button has-icon wp-element-button\" type=\"submit\" ><svg class=\"search-icon\" viewbox=\"0 0 24 24\" width=\"24\" height=\"24\">\n\t\t\t\t\t<path d=\"M13 5c-3.3 0-6 2.7-6 6 0 1.4.5 2.7 1.3 3.7l-3.8 3.8 1.1 1.1 3.8-3.8c1 .8 2.3 1.3 3.7 1.3 3.3 0 6-2.7 6-6S16.3 5 13 5zm0 10.5c-2.5 0-4.5-2-4.5-4.5s2-4.5 4.5-4.5 4.5 2 4.5 4.5-2 4.5-4.5 4.5z\"><\/path>\n\t\t\t\t<\/svg><\/button><\/div><input type=\"hidden\" name=\"trp-form-language\" value=\"de\"\/><\/form>\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<p class=\"wp-block-paragraph\">Wir k\u00f6nnen die Mechanismen neurop\u00e4diatrischer Erkrankungen auf verschiedenen biologischen Ebenen analysieren. Einige Krankheiten sind typischerweise an einer von ihnen beteiligt, andere wiederum sind an mehreren wiederkehrend beteiligt. Die Gruppierung in funktionelle Gruppen ist jedoch n\u00fctzlich, um ihre gemeinsamen Elemente zu analysieren und ihr Verst\u00e4ndnis aus biologischer Sicht zu f\u00f6rdern.  <\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img fetchpriority=\"high\" decoding=\"async\" width=\"717\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png\" alt=\"\" class=\"wp-image-3863 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png 717w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-210x300.png 210w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-768x1097.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1075x1536.png 1075w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1434x2048.png 1434w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-8x12.png 8w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1568x2240.png 1568w\" sizes=\"(max-width: 717px) 100vw, 717px\" \/><\/figure><\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-3a855b8f\" 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>Spitzenniveau.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-0234d2db\" 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>Physikalische Wissenschaften.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Biophysik. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Biostatistik<\/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>Nano-Ebene.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3f2a0790\" 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><a href=\"https:\/\/en.wikipedia.org\/wiki\/Genomics\">Genomik<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Es gibt Unterschiede zwischen Genomik und Genetik. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Genetik ist die Untersuchung der Funktion und Zusammensetzung von Genen sowie ihrer Vererbung und der Krankheiten, die sie hervorrufen. <\/li>\n\n\n\n<li>Unter Genomik versteht man die Untersuchung der gesamten genetischen Information eines Organismus, einschlie\u00dflich nichtkodierender Regionen. <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Das Genom eines Individuums ist in Chromosomen verpackt, die aus Chromatin bestehen, das wiederum aus DNA-Str\u00e4ngen besteht, die um Histone gepackt sind. DNA-Str\u00e4nge entstehen durch die Kombination von Basenpaaren.  <\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" width=\"856\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png\" alt=\"\" class=\"wp-image-3341\" style=\"width:330px;height:395px\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png 856w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-251x300.png 251w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-768x919.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-10x12.png 10w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1.png 1284w\" sizes=\"(max-width: 856px) 100vw, 856px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Wir k\u00f6nnen die verschiedenen genomischen Krankheiten in folgende Kategorien einteilen:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/cariotipo-en-la-era-del-acgh\/\">Aneuploidien und andere zytogenetische Fehler<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/sindromes-de-microdeleccion-y-microduplicacion\/\">Chromosomenumlagerungen und CNVs.<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Und genetische Erkrankungen bei:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/notable-mutations%ef%bf%bc\/\">Punktmutationen und monogenetische Erkrankungen.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/str-short-tandem-repeat-disorders\/\">Dynamische Mutationen und STRs.<\/a><\/li>\n\n\n\n<li>DNA-Reparaturst\u00f6rungen. <\/li>\n\n\n\n<li>Telomere.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Es gibt mehrere Ressourcen, um genomische und genetische Krankheiten zu konsultieren, wie zum Beispiel: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/neuropediatoolkit.org\/de\/decipher-genome-browser\/\">Genom-Browser entschl\u00fcsseln. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/gene-reviews\/\">GeneReviews<\/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:\/\/es.wikipedia.org\/wiki\/Epigenoma\">Epigenomik<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metilaci%C3%B3n_del_ADN\">Methylierung.<\/a> <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK535150\/?report=reader\">Epigenetik und durch Pr\u00e4gefehler verursachte Krankheiten<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/cromatinopatias\/\">Chromatinopathien.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK550348\/\">Methylom und epigenetischer Fingerabdruck. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"631\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png\" alt=\"\" class=\"wp-image-4346\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-300x185.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-768x474.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1536x947.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-2048x1263.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-18x12.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1568x967.png 1568w\" 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><a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcriptomics_technologies\">Transkriptomik<\/a><\/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=\"754\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png\" alt=\"\" class=\"wp-image-3760\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-300x221.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-768x566.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47.png 1036w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-e160fa6b22288c6f1f95bb1b25656c00\" 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:CGURW97Q}<\/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\">Standard<\/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<p class=\"wp-block-paragraph\">Es gibt zwei Prozesse im Zusammenhang mit der RNA, die die Weitergabe genetischer Informationen zur Produktion von Proteinen erm\u00f6glichen. Sie sind die <a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcription_(biology)\">Transkription <\/a>und die <a href=\"https:\/\/es.wikipedia.org\/wiki\/Traducci%C3%B3n_(gen%C3%A9tica)\">\u00dcbersetzung<\/a>, darunter verschiedene Prozesse, bei denen die mRNA aus einer Pr\u00e4-mRNA ausgereift wird, sogenannte <a href=\"https:\/\/en.wikipedia.org\/wiki\/Post-transcriptional_modification\">Modifikationsmechanismen nach der Transkription<\/a>. Beteiligt sind mehrere RNA-basierte Molek\u00fcle wie t-RNA und snRNA (Ribonukleoproteine). Es gibt auch Modifikationsmechanismen<a href=\"https:\/\/es.wikipedia.org\/wiki\/Modificaci%C3%B3n_postraduccional\"> Nach\u00fcbersetzung<\/a> von Proteinen. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Transkription. \n<ul class=\"wp-block-list\">\n<li>Transkriptopathien. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Nach der Transkription.\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/spliceopathies\/\">Splei\u00dfopathien.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/thebiologynotes.com\/alternative-splicing\/\">Alternatives Splei\u00dfen.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u00dcbersetzung.\n<ul class=\"wp-block-list\">\n<li>Ribosomopathien. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Nach\u00fcbersetzung. <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nature.com\/articles\/nrg3074\">Nichtkodierende RNA.<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/de\/oligonucleotidos-antisentido\/\">Antisense-Oligonukleotide. <\/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><a href=\"https:\/\/es.wikipedia.org\/wiki\/Prote%C3%B3mica\">Proteomik<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Der <a href=\"https:\/\/en.wikipedia.org\/wiki\/Proteinopathy\">Proteinopathien<\/a> Dabei handelt es sich um genetisch bedingte Erkrankungen, die die kodierenden Regionen der DNA und die Konformation der Aminos\u00e4ureketten beeintr\u00e4chtigen. Von diesem Konzept ausgeschlossen sind Krankheiten, die beispielsweise durch nicht-kodierende RNA oder durch Mutationen verursacht werden, die sich auf die Aminos\u00e4uresequenz auswirken. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In diesem Kapitel werden wir Krankheiten jedoch anhand der Art des Proteins, das sie betreffen, in Gruppen einteilen. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Es gibt 3 Hauptgruppen von Proteinen. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Funktionelle Proteine \u200b\u200b(Enzyme). Seine Ver\u00e4nderung f\u00fchrt zu Stoffwechselerkrankungen (Metabolopathien). Sie werden meist autosomal-rezessiv vererbt <a href=\"http:\/\/neuropediatoolkit.org\/de\/enfermedades-metabolicas-ligadas-al-x\/\">(obwohl nicht alle)<\/a>. <\/li>\n\n\n\n<li>Strukturproteine. Seine Ver\u00e4nderung f\u00fchrt zu mikroskopischen (in der Zelle und im Gewebe) oder makroskopischen physikalischen (ph\u00e4notypischen) Ver\u00e4nderungen. Sie haben normalerweise einen autosomal-dominanten Erbgang. <\/li>\n\n\n\n<li>Zellsignalisierung und Ligandenbindung. Es handelt sich um Strukturproteine \u200b\u200bmit einer spezifischen Funktion, die mit extrazellul\u00e4ren und intrazellul\u00e4ren Kommunikationswegen verbunden sind. Es gibt Rezeptoren, Kan\u00e4le und Transporter, aber auch Neurotransmitter, Hormone und Signalkaskaden. Besonders wichtig sind sie im Zentralnervensystem, das \u00fcber ein spezifisches interzellul\u00e4res Kommunikationssystem (Synapse) verf\u00fcgt. <\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Im Internet <a href=\"https:\/\/www.proteinatlas.org\/\">Proteinatlas<\/a> Abh\u00e4ngig vom zu untersuchenden Gewebe kann die histologische Expression verschiedener Proteine \u200b\u200b\u00fcberpr\u00fcft werden. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-4b6a0c3d\" 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><a href=\"https:\/\/es.wikibooks.org\/wiki\/Enfermedades_metab%C3%B3licas_producidas_por_enzimas_defectuosas\">Enzymopathien.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Die meisten erblichen Stoffwechselerkrankungen (angeborene Stoffwechselst\u00f6rungen) sind auf die Mutation eines Enzyms zur\u00fcckzuf\u00fchren, das eine Stoffwechselblockade in einem Stoffwechselweg ohne Alternative erzeugt (obwohl einige andere beispielsweise auf Transportopathien zur\u00fcckzuf\u00fchren sind). Siehe unten zum Metabolom. <\/p>\n\n\n\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/7qgxdfs9r7-u\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/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\/de\/sinaptopatias\/\">Synaptopathien.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\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\">Mehrere Mechanismen zur Ver\u00e4nderung der Neurotransmitterfunktion.<\/figcaption><\/figure>\n\n\n<p class=\"wp-block-paragraph\">Jenseits der <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">klassische Neurotransmittererkrankungen<\/a>In den letzten Jahren wurden weitere komplexe Krankheiten entdeckt, die mit der spezifischen Maschinerie der Synapse zusammenh\u00e4ngen und anhand ihrer Lage in dieser Struktur in folgende Kategorien eingeteilt werden k\u00f6nnen: <\/p>\n\n\n<ul class=\"wp-block-list\">\n\n<li>Pr\u00e4synaptisch. Dabei handelt es sich um Erkrankungen, die durch eine St\u00f6rung der Synthese, des Transports oder der Fusion der synaptischen Vesikel entstehen. Ein Beispiel ist die Enzephalopathie als Folge einer Mutation <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n\n<\/ul>\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\">Standard<\/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<ul class=\"wp-block-list\">\n\n<li>Postsynaptisch. Dabei handelt es sich um Erkrankungen, die mit dendritischen Rezeptoren zusammenh\u00e4ngen. Ein Beispiel sind die <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpathien (Glutamatrezeptor, Inotrop, NMDA, Untereinheit 1). <\/a><\/li>\n\n<\/ul>\n\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\">Kanalopathien.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><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 class=\"wp-block-paragraph\"><a href=\"https:\/\/scn-portal.broadinstitute.org\/\">SCNportal. <\/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>Intrazellul\u00e4re molekulare Wege.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">mTORopathien.<\/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 class=\"wp-block-paragraph\"><a href=\"https:\/\/rasopathiesnet.org\/\">RASopathien. <\/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>Transportopathie<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Der <a href=\"http:\/\/neuropediatoolkit.org\/de\/transportopatias\/\">Transportopathien<\/a> sind all jene Krankheiten, die auf eine Fehlfunktion von Membrantransportproteinen zur\u00fcckzuf\u00fchren sind, einer Reihe kanalf\u00f6rmiger Strukturen, die den Durchgang durch die Membranen erm\u00f6glichen <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">aktiver Transport<\/a> wie er <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">Passiver Transport<\/a> zugunsten des Gradienten, der den Ein- und Austritt verschiedener Verbindungen in der Zelle und den Zellorganellen erm\u00f6glicht und reguliert. <\/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 class=\"wp-block-paragraph\">Wir k\u00f6nnen sie auch anhand der transportierten Stoffe klassifizieren <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">Uniporter <\/a>(1 Einzelstoff) oder <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">Mittransporter<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">Symporter<\/a>, 2 Stoffe in die gleiche Richtung; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">Antiporter<\/a>, 2 Stoffe in entgegengesetzter Richtung). <\/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 class=\"wp-block-paragraph\">Es gibt verschiedene Ressourcen f\u00fcr Informationen \u00fcber Membrantransporter, wie z <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">Website der Internationalen Gesellschaft f\u00fcr Membrantransportproteine<\/a>, oder die Bioparadigms-Website, wo a <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">Klassifizierungsprotokoll aller SLC-Proteine <\/a>bisher entdeckten und deren Funktion, sowie der Initiative <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>, f\u00fcr die Behandlungsforschung.<\/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\">Metabolomik<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Es gibt mehrere Ressourcen f\u00fcr die Untersuchung von Stoffwechselerkrankungen, die n\u00fctzlichste ist die <a href=\"http:\/\/neuropediatoolkit.org\/de\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Die Webseiten von <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemische Wege<\/a>, wo ein Diagramm mit allen relevanten Stoffwechselwegen verf\u00fcgbar ist, oder die Website des <a href=\"https:\/\/www.genome.jp\/kegg\/\">FASS<\/a> (Kyoto Encyclopedia of Genes and Genomes), wo tabellarische Informationen zu Metaboliten, Enzymen und kodierenden Genen sowie Diagramme aller Stoffwechselwege verf\u00fcgbar sind, oder die Website <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, eine Enzyklop\u00e4die des menschlichen Stoffwechsels und der Gene. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Aminoacidopathien und Peptiderkrankungen. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Erkrankungen des Kohlenhydratstoffwechsels. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Erkrankungen des Stoffwechsels von Fetts\u00e4uren, Carnitin und Ketonk\u00f6rpern.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopathie<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purine, Pyrimidine und Nukleotide. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Energiestoffwechsel. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/de\/cdg-roadmap\/\">Glykosylierungsst\u00f6rungen.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Stoffwechsel von Neurotransmittern.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Stoffwechsel von Vitaminen und Cofaktoren. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Stoffwechsel von Spurenelementen und Metallen.<\/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>Mikroebene.<\/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\" width=\"1024\" height=\"900\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" style=\"width:618px;height:542px\" 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: 1024px) 100vw, 1024px\" \/><\/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>Ziliopathien.<\/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\">Standard<\/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 class=\"wp-block-paragraph\"><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>Zytoskelett<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">Tubulinopathien<\/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>Golgiopathien<\/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>Mitochondriale Erkrankungen<\/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 class=\"wp-block-paragraph\"><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\">\n<blockquote class=\"wp-embedded-content\" data-secret=\"etrHdrTidF\"><a href=\"https:\/\/umdf.org\/\">Heim<\/a><\/blockquote><iframe class=\"wp-embedded-content\" sandbox=\"allow-scripts\" security=\"restricted\" style=\"position: absolute; visibility: hidden;\" title=\"\u201eZuhause\u201c \u2013 UMDF\" src=\"https:\/\/umdf.org\/embed\/#?secret=TB4SS6zllm#?secret=etrHdrTidF\" data-secret=\"etrHdrTidF\" width=\"600\" height=\"338\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe>\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\/de\/facies-tosca\/\">Lysosomale Erkrankungen<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\n<p class=\"wp-block-paragraph\"><\/p>\n\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\/de\/enfermedades-peroxisomales\/\">Peroxisomale Erkrankungen<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n\n<p class=\"wp-block-paragraph\"><\/p>\n\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\">Ribosomopathien<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><\/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>Makroebene. <\/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>Makroskopischer Ph\u00e4notyp. Neuroanatomie.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><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 class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/de\/jerarquia-del-control-del-sistema-motor\/\">Hierarchie der motorischen Systemsteuerung. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioenzephalopathien.<\/li>\n\n\n\n<li>Leukenzephalopathien. <\/li>\n\n\n\n<li>St\u00f6rungen der Basalganglien.<\/li>\n\n\n\n<li>Zerebellopathien. <\/li>\n\n\n\n<li>Myelopathien. <\/li>\n\n\n\n<li>Neuromuskul\u00e4re Erkrankungen.<ul><li>Polyneuropathien.<\/li><li>Myopathien.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Erkrankungen der neuromuskul\u00e4ren Verbindung. <\/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>Entwicklungs-(morphologischer) Ph\u00e4notyp. <\/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 class=\"wp-block-paragraph\">Embryologie.  <\/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 class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/de\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembryopathien. <\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"http:\/\/neuropediatoolkit.org\/de\/embriologia-y-neurodesarrollo\/\">Neurokristopathien.<\/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>Neurologischer funktioneller Ph\u00e4notyp. Neurowissenschaften.<\/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>Verhaltensph\u00e4notypen<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><\/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>Kognitive Endoph\u00e4notypen<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\"><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>\u00dcberindividuelle Konsequenzen. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p class=\"wp-block-paragraph\">\u00dcber das Individuum hinaus k\u00f6nnen auch die verschiedenen Ebenen der interindividuellen Organisation von klinischem Interesse sein.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Familie.<\/li>\n\n\n\n<li>Gesellschaft.<\/li>\n\n\n\n<li>Kultur. <\/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=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-60.png\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-768x524.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-18x12.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Wie man ein Labor f\u00fcr Neurop\u00e4diatrie aufbaut. Wir k\u00f6nnen die Mechanismen neurop\u00e4diatrischer Erkrankungen auf verschiedenen biologischen Ebenen untersuchen. Einige Erkrankungen treten typischerweise auf einer dieser Ebenen auf, w\u00e4hrend andere wiederholt auf mehreren Ebenen auftreten. Dennoch ist es hilfreich, sie in funktionelle Gruppen einzuteilen, um ihre gemeinsamen Merkmale zu analysieren und ihr Verst\u00e4ndnis aus der Perspektive &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/de\/laboratorio\/\" class=\"more-link\">Lesen Sie weiter<span class=\"screen-reader-text\"> \u201eLab\u201c<\/span><\/a><\/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\/de\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":25,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":8551,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/pages\/3246\/revisions\/8551"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}