Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

The Smith-Lemli-Opitz syndrome is a recessive inherited disorder characterized by neurologic developmental defects and dysmorphic features in many organs. Recently, abnormal cholesterol biosynthesis with impaired conversion of 7-dehydrocholesterol to cholesterol has been discovered in homozygotes. T...

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Bibliographic Details
Published in:J Clin Invest
Main Authors: Xu, G, Salen, G, Shefer, S, Ness, G C, Chen, T S, Zhao, Z, Tint, G S
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 1995
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295374/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7814648/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117678
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