Galactocerebrosidase Deficiency in Globoid Cell Leucodystrophy of Late Onset
Open Access
- 1 June 1972
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 47 (253) , 449-450
- https://doi.org/10.1136/adc.47.253.449
Abstract
Three children with progressive neurological disease are described in whom there was deficient galactocerebrosidase activity in white cells. Necropsy in one patient showed the neuropathological features of globoid cell leucodystrophy, and it is suggested that these patients suffered from a clinically and genetically distinct late form of Krabbe's disease.Keywords
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- Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-GalactosidaseProceedings of the National Academy of Sciences, 1970
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