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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

โœ Scribed by Richard I. Kelley


Book ID
115828188
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
752 KB
Volume
236
Category
Article
ISSN
0009-8981

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The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol โŒฌ 7 -reductase. The syndrome can usually be diagnosed by demonstrating markedly increased plasma concentrations of the cholesterol precursor, 7-dehydrocholesterol. We describe a simple and rapid