The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

Using both a continuous infusion of isotopically labeled [1- 13C]galactose with a steady-state analysis and a single injection kinetic approach, we have calculated the apparent galactose appearance rate (GAR) in patients with galactose-1-phosphate uridyltransferase deficiency and control subjects. W...

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Veröffentlicht in:	Molecular genetics and metabolism 2004, Vol.81 (1), p.22-30
Hauptverfasser:	Berry, Gerard T., Moate, Peter J., Reynolds, Robert A., Yager, Claire T., Ning, Cong, Boston, Raymond C., Segal, Stanton
Format:	Artikel
Sprache:	eng
Schlagworte:	[1- 13C]galactose Adolescent Adult Age Factors Case-Control Studies Child Child, Preschool De novo galactose synthesis Female Galactose - biosynthesis Galactose - blood Galactosemia Gas Chromatography-Mass Spectrometry Humans Infant Infant, Newborn Infusion Pumps Injections, Intravenous Kinetics Male Regression Analysis Stable Isotope Time Factors UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency UTP-Hexose-1-Phosphate Uridylyltransferase - genetics
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