Screening for abnormal cholesterol biosy
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Honda, Akira; Batta, Ashok K.; Salen, Gerald; Tint, G. Stephen; Chen, Thomas S.;
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Article
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1997
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John Wiley and Sons
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English
⚖ 155 KB
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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