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Claire Yager

University of Pennsylvania

20

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446

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Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia

2008 European Journal of Pediatrics
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Citations (7)
Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

2008 Molecular Genetics and Metabolism
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Urinary galactitol and galactonate quantified by isotope-dilution gas chromatography-mass spectrometry

2006 Clinica Chimica Acta
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Citations (13)
Pathways of galactose metabolism by galactosemics: Evidence for galactose conversion to hepatic UDPglucose

2006 Molecular Genetics and Metabolism
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Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

2005 Molecular Genetics and Metabolism
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Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase.

2004 Molecular Genetics and Metabolism
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Citations (8)
Extended [13C]galactose oxidation studies in patients with galactosemia

2004 Molecular Genetics and Metabolism
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Identification of galactitol and galactonate in red blood cells by gas chromatography/mass spectrometry

2002 Clinica Chimica Acta
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Erythrocyte Galactose 1-Phosphate Quantified by Isotope-Dilution Gas Chromatography-Mass Spectrometry

2002 Clinical Chemistry
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Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts

2001 Journal of Inherited Metabolic Disease
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Citations (6)