Title : Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.

Pub. Date : 2000 Aug

PMID : 10946022






1 Functional Relationships(s)
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1 The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Delta(7)-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors 7-dehydrocholesterol (7DHC) and 8DHC. Cholesterol 7-dehydrocholesterol reductase Homo sapiens