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  • Title: Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.
    Author: Harzer K.
    Journal: Hum Genet; 1977 Feb 11; 35(2):193-6. PubMed ID: 844865.
    Abstract:
    A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.
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