Article
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Human mutation - 1 Jan 1997
Wenger D A, Rafi M A, Luzi P
Abstract excerpt
Galactocerebrosidase (GALC) is a lysosomal beta-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is als...
Topics
- Animals
- Disease Models, Animal
- Dogs
- Galactosylceramidase
- Humans
- Leukodystrophy, Globoid Cell
- Mice
- Mutation
- Polymorphism, Genetic