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 language | English |
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Pages (from-to) | 1317-24 |
Number of pages | 8 |
Journal | Clinical Chemistry |
Volume | 54 |
Issue number | 8 |
DOIs | |
Publication status | Published - 2008 |