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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

1 Apr 1995

Abstract excerpt

A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography/mass spectrometry for diagnosis of Smith-Lemli-Opitz syndrome, an apparent primary defect of cholesterol biosynthesis associated with low plasma levels of cholesterol and high levels of its precursor, 7DHC. Results are summarized for specimens from normal controls and from 40 patients with...

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PMID: 7664465
DOI: 10.1016/0009-8981(95)06038-4

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