Article
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
Annals of neurology - 1 Jan 1997
Bernardini G L, Herrera D G, Carson D, DeGasperi R, Gama Sosa M A, Kolodny E H, Trifiletti R
Abstract excerpt
Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems, the diagnosis of which is based on clinical findings and the determination of low to absent functional activity of the enzyme beta-galactocerebrosidase. We report the presentation of late-onset Krabbe's disease in 2 siblings, a 17-year-old boy and his 16-year-old sister, both with marked...
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