Determination of [13C] galactose enrichment in human plasma by gas chromatography/positive chemical ionization tandem mass spectrometry

PT Fenn, C Ning, S Segal…

Index: Fenn; Ning; Segal; Blair Journal of mass spectrometry : JMS, 2000 , vol. 35, # 2 p. 218 - 223

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Citation Number: 7

Abstract

Abstract Galactosemia is a potentially fatal disease resulting from a deficiency of galactose-1- phosphate uridyl transferase. In order to perform mechanistic studies designed to elucidate further the etiology of the disease, we required a method to monitor 13 C enrichment in plasma galactose following a single oral dose or intravenous infusion of [1-13 C] galactose. Determinations of plasma [13 C] galactose enrichment requires methodolgy with ...