Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reductase, whose activity can be measured by 24-h excretion of its product mevalonate....

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Bibliographic Details
Main Authors: Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P. Flavell, Don S. Lin, Lauren Hatcher, D.Roger Illingworth, William E. Connor
Format: Article
Language:English
Published: Elsevier 2002-10-01
Series:Journal of Lipid Research
Subjects:
7-dehydrocholesterol
8-dehydrocholesterol
3-hydroxy-3-methylglutaryl-coenzyme A reductase
24-h urine
sterols
mevalonate shunt pathway
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520327851

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http://www.sciencedirect.com/science/article/pii/S0022227520327851

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