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P.101 Biosynthesis of cholesterol and 7-dehydrocholesterol in Smith-Lemli-Opitz (SLO) fibroblasts measured by gas chromatography-mass spectrometry (GCMS)

โœ Scribed by J.G.N. de Jong; P.E. Jira; J.A.J.M. Bakkeren; R. Zuiderent; R.A. Wevers; R.A. Wanders; G.J. Romeijn; J.A.M. Smeitink


Book ID
117428765
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
299 KB
Volume
16
Category
Article
ISSN
0261-5614

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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