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...

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Hlavní autoři: Shefer, S, Salen, G, Batta, A K, Honda, A, Tint, G S, Irons, M, Elias, E R, Chen, T C, Holick, M F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC185814/
https://ncbi.nlm.nih.gov/pubmed/7560069
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