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    Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

    Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of gal...

    Mashbat Bayarchimeg, Dunia Ismail… in JIMD Reports - Case and Research Reports, … (2012)