Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.

@article{Kelley1995DiagnosisOS,
  title={Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.},
  author={Richard I Kelley},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1995},
  volume={236 1},
  pages={45-58}
}
  • Richard I Kelley
  • Published 1995 in
    Clinica chimica acta; international journal of…
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 Smith-Lemli-Opitz syndrome (SLOS). Whereas the concentration of 7DHC (as a combined peak… CONTINUE READING
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