Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

We investigated the enzyme defect in late cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome, a recessively inherited developmental disorder characterized by facial dysmorphism, mental retardation, and multiple organ congenital anomalies. Reduced plasma and tissue cholesterol with increased...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Shefer, S, Salen, G, Batta, A K, Honda, A, Tint, G S, Irons, M, Elias, E R, Chen, T C, Holick, M F
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC185814/
https://ncbi.nlm.nih.gov/pubmed/7560069
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados