Article
Molecular basis of late-life globoid cell leukodystrophy.
Human mutation - 1 Jan 1999
De Gasperi R, Gama Sosa M A, Sartorato E, Battistini S, Raghavan S, Kolodny E H
Abstract excerpt
Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of GALC deficiency in a patient with a late-life mild form of globoid cell leukodystrophy who survived into the eighth...
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