Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease)
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 35 (2), 193-196
- https://doi.org/10.1007/bf00393969
Abstract
A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside β-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.This publication has 4 references indexed in Scilit:
- Pränatale Diagnose der Globoidzell-Leukodystrophie (Morbus Krabbe)Deutsche Medizinische Wochenschrift (1946), 1976
- Fetal Globoid Cell Leukodystrophy (Krabbe Disease)Archives of Neurology, 1973
- In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease)Biochemical and Biophysical Research Communications, 1971
- Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-GalactosidaseProceedings of the National Academy of Sciences, 1970