✦ LIBER ✦

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man

✍ Scribed by S. E. Olpin; R. J. Pollitt; J. Mcmenamin; N. J. Manning; G. Besley; J. P. N. Ruiter; R. J. A. Wanders

Book ID: 110406084
Publisher: Springer
Year: 2002
Tongue: English
Weight: 73 KB
Volume: 25
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1021251202287

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Neuroimage Findings in 2-Methyl-3-Hydrox

Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency

✍ María R. Cazorla; Alfonso Verdú; Celia Pérez-Cerdá; Antonia Ribes 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 319 KB

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogen

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

✍ Rob Ofman; P.N. Jos Ruiter; Marike Feenstra; Marinus Duran; Tien Bwee Poll-The; 📂 Article 📅 2003 🏛 American Society of Human Genetics 🌐 English ⚖ 329 KB

2-Methyl-3-hydroxybutyryl-CoA dehydrogen

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

✍ Jörn Oliver Sass; Rosemarie Forstner; Wolfgang Sperl 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 151 KB

HSD17B10 replaces HADH2 as the approved

HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

✍ Stanley H. Korman; Song-Yu Yang 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 84 KB

Medium chain acyl CoA dehydrogenase defi

Medium chain acyl CoA dehydrogenase deficiency causes unexplained coma in a 10-year-old child

✍ Barnaby Scrace; Peter Wilson; John Pappachan 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

Spastic diplegia and periventricular whi

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases

✍ Bwee Tien Poll-The; Ronald J.A Wanders; Jos P.N Ruiter; Rob Ofman; Charles B.L.M 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 432 KB