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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | 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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