- D-bifunctional protein deficiency
- 17β-hydroxysteroid dehydrogenase type 4 deficiency.
Medical dictionary. 2011.
Medical dictionary. 2011.
D-Bifunctional Protein Deficiency — (officially called 17 β hydroxysteroid dehydrogenase) is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific… … Wikipedia
D-bifunctional protein deficiency — Classification and external resources ICD 10 E80.3 OMIM 261515 DiseasesDB … Wikipedia
17β-hydroxysteroid dehydrogenase type 4 deficiency — an autosomal recessive syndrome clinically similar to cerebrohepatorenal syndrome, caused by mutation in the HSD17B4 gene (locus: 5q2), which encodes D bifunctional protein (17β hydroxysteroid dehydrogenase type 4), resulting in deficiency… … Medical dictionary
Mevalonate kinase deficiency — Classification and external resources A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features. OMIM … Wikipedia
HSD17B4 — Hydroxysteroid (17 beta) dehydrogenase 4, also known as HSD17B4, is a human gene.cite web | title = Entrez Gene: HSD17B4 hydroxysteroid (17 beta) dehydrogenase 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… … Wikipedia
Adrenoleukodystrophy — Classification and external resources T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features… … Wikipedia
Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or … Wikipedia
НЕДОСТАТОЧНОСТЬ ФЕРМЕНТОВ — мед. Синдромы врождённых нарушений обмена веществ встречаются редко, но оказывают значительное влияние на физическое, интеллектуальное, психическое развитие и качество жизни (например, фенилкетонурия, гомоцистинурия, гликогенозы, синдромы ломкой… … Справочник по болезням
Danon disease — Classification and external resources OMIM 300257 MeSH D052120 Danon disease (or glycogen storage disease Type IIb) is a metabol … Wikipedia
Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 … Wikipedia