A carregar...

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

2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation. In this article, we report the elucidation of the molecular basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. MALDI-TOF mass spectrometry analysis revealed...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ofman, Rob, Ruiter, Jos P. N., Feenstra, Marike, Duran, Marinus, Poll-The, Bwee Tien, Zschocke, Johannes, Ensenauer, Regina, Lehnert, Willy, Sass, Jörn Oliver, Sperl, Wolfgang, Wanders, Ronald J. A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180283/
https://ncbi.nlm.nih.gov/pubmed/12696021
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!