Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

1995 ◽  
Vol 236 (1) ◽  
pp. 45-58 ◽  
Author(s):  
Richard I. Kelley
Keyword(s):  
Mass Spectrometry ◽  
Gas Chromatography ◽  
Amniotic Fluid ◽  
Skin Fibroblasts ◽  
Gas Chromatography Mass Spectrometry ◽  
Cultured Skin ◽  
Chromatography Mass Spectrometry ◽  
Opitz Syndrome

Adsorption of organic acids from amniotic fluid and urine onto silica gel before analysis by gas chromatography and combined gas chromatography/mass spectrometry.

1979 ◽  
Vol 25 (10) ◽  
pp. 1814-1820 ◽  
Author(s):  
V P Williams ◽  
D K Ching ◽  
S D Cederbaum
Keyword(s):  
Mass Spectrometry ◽  
Gas Chromatography ◽  
Organic Acids ◽  
Amniotic Fluid ◽  
Silica Gel ◽  
Gas Chromatography Mass Spectrometry ◽  
Adsorption Method ◽  
Suitable Alternative ◽  
Chromatography Mass Spectrometry ◽  
Manual Extraction

Abstract We describe a method for adsorbing organic acids from amniotic fluid and urine specimens onto a column of silica gel before analysis by gas chromatography and by combined gas chromatography/mass spectrometry. Analytical recoveries of individual organic acids by our adsorption method compare favorably with those obtained by a more laborious manual extraction with ethyl acetate. Results for specimens of amniotic fluid and urine show that our method gives better recoveries of most of the organic acids. Furthermore, because citric acid is also extracted in our method without extracting significant amounts of sulfate or phosphate, the method is a suitable alternative to methods involving the use of DEAE-Sephadex for concentrating these acids.

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