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Purpose : The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program.
Methods : We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1... |
