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    Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

    Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease by Benjamin Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J. Bennett, W. Edward Highsmith, Kristin D'Aco

    Published 2015-03-01
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