Article
Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.
Molecular genetics and metabolism - 1 Feb 2005
Ficicioglu Can, Yager Claire, Segal Stanton
Abstract excerpt
We measured galactitol, galactonate, and galactose-1-phosphate in the red blood cell (RBC) to elucidate the biochemical phenotype of infants with a Duarte/galactosemia (D/G) genotype by isotope dilution GC/MS. The RBC galactonate, galactitol and Gal-1-P were quantified in 14 D/G newborns on a lactose containing formula or breast milk, eight D/G newborns on a galactose-free formula, and 18 D/G children between 1...
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