Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase. This enzyme converts 7-dehydrocholesterol (7-DHC) to cholesterol in the last step in cholesterol biosynthesis. The pathology of this co...

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Bibliographic Details
Main Authors: Robert D. Steiner, Leesa M. Linck, Donna P. Flavell, Don S. Lin, William E. Connor
Format: Article
Language:English
Published: Elsevier 2000-09-01
Series:Journal of Lipid Research
Subjects:
hypocholesterolemia
multiple malformations
sterols
7-dehydrocholesterol
8-dehydrocholesterol
gas chromatography
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520334568

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http://www.sciencedirect.com/science/article/pii/S0022227520334568

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