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Interference of 7-dehydrocholesterol in α-tocopherol determination by high-performance liquid chromatography: A possible screening test for the smith-lemli-opitz syndrome

✍ Scribed by F. Michel; J. P. Cristol; M. H. Vernet; C. Feillet; M. -A. Carbonneau; C. L. Léger; J. Castel; B. Descomps


Book ID
107495208
Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
482 KB
Volume
75
Category
Article
ISSN
0003-021X

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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