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  • Title: Prenatal diagnosis of galactosemia.
    Author: Schapira F, Gregori C, Boué J, Henrion R, Vigneron C, Vidailhet M.
    Journal: Biomedicine; 1978 Jun; 29(4):136-8. PubMed ID: 687757.
    Abstract:
    We have monitored 3 pregnancies at risk for galactosemia by deficiency in Galactose-1-Phospho uridyl transferase. Galactosemia was diagnosed in the 1st case; heterozygoty in the 2nd, and a "double heterozygoty" in the 3rd. The latter is the first example of such a diagnosis. Post natal confirmation was obtained in the three cases. Arguments are given for the usefulness of this prenatal diagnosis.
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