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

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a severe disorder of cholesterol synthesis classically diagnosed prenatally by GC-MS analysis of sterols in amniotic fluid. In recognition of the current move towards tandem mass spectrometry (MS/MS) methodologies we present prototype LC-MS/MS methods...

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Autores principales: Griffiths, William J., Wang, Yuqin, Karu, Kersti, Samuel, Emmanuel, McDonnell, Shane, Hornshaw, Martin, Shackleton, Cedric
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2533047/
https://ncbi.nlm.nih.gov/pubmed/18556335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2007.100644
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