Prenatal diagnosis of globoid cell leuko
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K. Harzer
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Article
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1977
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Springer
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English
β 177 KB
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 act