Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment—mass spectrometry of urine bile salts

A method is described for the rapid determination of urinary bile salt profiles by fast atom bombardment-mass spectrometry (FAB-MS). Urine was passed through a reverse-phase octadecylsilane bonded silica cartridge and the bile salts eluted with methanol. Negative ion FAB spectra could be obtained fr...

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Veröffentlicht in:	Clinica chimica acta 1986-12, Vol.161 (2), p.221-231
Hauptverfasser:	Lawson, A.M., Madigan, M.J., Shortland, D., Clayton, P.T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bile Acids and Salts - urine Biological and medical sciences Brain Diseases - urine Chemical Fractionation Cholic Acids - urine Errors of metabolism Fast atom bombardment- mass spectrometry Female Gas Chromatography-Mass Spectrometry Humans Infant Infant, Newborn Infantile Refsum's disease Kidney Diseases - urine Lipids (lysosomal enzyme disorders, storage diseases) Liver Diseases - enzymology Male Mass Spectrometry Medical sciences Metabolic diseases Peroxisomal disorders Refsum Disease - urine Syndrome Taurine - urine Zellweger syndrome
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