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Quantification of 7‐dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam‐mass spectrometry as a biochemical diagnostic marker for the smith‐lemli‐opitz syndrome
Author(s) -
Sattler Wolfgang,
Kostner Gerhard M.,
Malle Ernst,
Leis HansJÖRg
Publication year - 1995
Publication title -
rapid communications in mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 136
eISSN - 1097-0231
pISSN - 0951-4198
DOI - 10.1002/rcm.1290091313
Subject(s) - chemistry , chromatography , derivatization , mass spectrometry , smith–lemli–opitz syndrome , detection limit , quantitative analysis (chemistry) , cholesterol , extraction (chemistry) , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
The qualitative and quantitative determination of cholesterol and 7‐dehydrocholesterol (7‐DHC) in plasma as a biochemical diagnostic marker for the Smith‐Lemli‐Opitz syndrome by liquid chromatography/particle beam interface‐mass Spectrometry (LC/PB‐MS) is presented. Baseline separation of cholesterol arid 7‐DHC is achieved on a silica column with hexane + ethanol (99:1 v/v) as mobile phase within a 10 min analysis. Recoveries of cholesterol and 7‐DHC in a simple two‐phase extraction system are nearly 100%. The absolute limit of detection using LC/PB‐MS is ≈10 ng. The method presented allows extraction, analysis and quantification of cholesterol and 7‐DHC within 15 min without the necessity of sample derivatization.