Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome.

@article{Griffiths2008PotentialOS,
  title={Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome.},
  author={William J Griffiths and Yuqin Wang and Kersti Karu and Emmanuel Samuel and Shane McDonnell and Martin P. Hornshaw and Cedric Shackleton},
  journal={Clinical chemistry},
  year={2008},
  volume={54 8},
  pages={1317-24}
}
BACKGROUND Smith-Lemli-Opitz syndrome (SLOS), a severe disorder of cholesterol synthesis, is classically diagnosed prenatally by GC-MS analysis of sterols in amniotic fluid. Considering the current trend toward tandem mass spectrometry (MS/MS) methodologies, we developed prototype LC-MS/MS methods for accurate diagnosis of the disorder. METHODS 3beta-Hydroxysterols in amniotic fluid are oxidized with cholesterol oxidase to their corresponding 3-ketones, which are then derivatized with Girard… CONTINUE READING
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Caprioli R, ed

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