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Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

✍ Scribed by G.S. Tint; Gerald Salen; Ashok K. Batta; Sarah Shefer; Mira Irons; Ellen Roy Elias; Dianne N. Abuelo; Virginia P. Johnson; Marie Lambert; Richard Lutz; Carolyn Schanen; Colleen A. Morris; George Hoganson; Rhiannon Hughes-Benzie

Book ID: 117164866
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 641 KB
Volume: 127
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(95)70261-x

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The Smith-Lemli-Opitz syndrome is a common birth defect syndrome caused by a deficiency of 7-dehydrocholesterol ⌬ 7 -reductase, an essential enzyme in the biosynthesis of cholesterol. The syndrome can usually be diagnosed easily from the plasma markers of markedly elevated 7-dehydrocholesterol and r