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  • Title: [Screening of newborns for inborn errors of galactose metabolism. Methods and results].
    Author: Gitzelmann R.
    Journal: Monatsschr Kinderheilkd (1902); 1976 Sep; 129(9):654-7. PubMed ID: 185513.
    Abstract:
    Three inborn errors of galactose metabolism as known today. Only two of them cause illness: the deficiencies of galactokinase and of galactose-l-phosphate uridyltransferase. Both can be detected through mass screening of newborns and are amenable to a simple and successful dietary treatment. Mass screening of newborns for disorders of galactose metabolism can be performed efficiently and inexpensively if it is incorporated in the general newborn screening program.
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