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

William J Griffiths, Yuqin Wang, Kersti Karu, Emmanuel Samuel, Shane McDonnell, Martin Hornshaw, Cedric Shackleton

    Research output: Contribution to journalArticlepeer-review

    44 Citations (Scopus)

    Abstract

    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.
    Original languageEnglish
    Pages (from-to)1317-24
    Number of pages8
    JournalClinical Chemistry
    Volume54
    Issue number8
    DOIs
    Publication statusPublished - 2008

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