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A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith–Lemli–Opitz patients

✍ Scribed by Cristiano Rizzo; Carlo Dionisi-Vici; Mario D’Ippoliti; Francesca Fina; Gaetano Sabetta; Giorgio Federici


Book ID
117076154
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
191 KB
Volume
291
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 ⌬ 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