Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

Abstract excerpt

Newborn screening for galactosemia yields a high number of false-positive results. Confirmatory DNA testing for unknown galactosemia mutations on the initial positive sample using novel techniques of mutation detection tenders itself to reduce the recall rate. The potential benefits of confirmatory DNA testing, however, could be offset by the detection of a high percentage of galactosemia carriers,...

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