Article
The human galactose-1-phosphate uridyltransferase gene.
Genomics - 1 Oct 1992
Leslie N D, Immerman E B, Flach J E, Florez M, Fridovich-Keil J L, Elsas L J
Abstract excerpt
Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with dietary galactose restriction will reverse the potentially lethal symptoms of the disease that are manifest in the newborn period. However, the long-term prognosis for these patients is variable. As a first step toward investigating the molecular basis for...
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