Article
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
Journal of inherited metabolic disease - 1 Jun 1998
Alano A, Almashanu S, Chinsky J M, Costeas P, Blitzer M G, Wulfsberg E A, Cowan T M
Abstract excerpt
Inherited deficiencies of UDP-galactose 4-epimerase (GALE) have been associated with two distinct phenotypes. The vast majority of North American patients are clinically asymptomatic, are identified through newborn screening programmes for classical galactosaemia, and are of African-American descent. At least two symptomatic patients have been reported, one Pakistani and the other Asian Muslim, both with severe...
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