✦ LIBER ✦

Smith-Lemli-Opitz syndrome: Biochemical before clinical diagnosis; early dietary management

✍ Scribed by Nwokoro, Ngozi A. ;Hyde, Bruce ;Mulvihill, John J.

Book ID: 101446309
Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 154 KB
Volume: 50
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320500415

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We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemica