Most inborn errors of metabolism are autosomal recessive diseases. However, there are some exceptions. For a complete list of all X-linked diseases, you can consult OMIM.
Category archives: Neurological diseases
Pigmentary disorders and neuropediatrics.
Rare neurological diseases diagnosable by simple means.
Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis and other disorders of cholesterol synthesis. Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. Uric acid: Lesch-Nyhan. MCV: X-linked alpha-thalassemia mental retardation syndrome. Ferritin. Neuroferritinopathies. TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. Peripheral blood smear: Acanthocytes: Neuroacanthocytosis. …
Continue reading «Enfermedades raras neurológicas diagnosticables por medios sencillos.»
Exon deletion tool.
This is an online calculator to determine whether a specific intragenic deletion is a candidate for exon-skipping therapy.
Pediatric myelin oligodendrocyte glycoprotein antibody-associated encephalomyelitis (anti-MOG).
https://pubs.rsna.org/doi/full/10.1148/rg.2020200032
Mosaicism and child neurology.
Neurocristopathies: Embryology and neurodevelopment.
Neuroichthyosis.
CDG roadmap.
https://pubmed.ncbi.nlm.nih.gov/32512173/
Risk factors for ASD.
The main identifiable risk factor in the clinical history is the presence of an older sibling with ASD, such that 1 in 5 children with older siblings with ASD will have an ASD diagnosis by age 3, being more frequent among males. Parental age is also a risk factor …