Article
Globoid cell leukodystrophy in cairn and West Highland white terriers.
The Journal of heredity - 1 Jan 2000
Wenger D A, Victoria T, Rafi M A, Luzi P, Vanier M T, Vite C, Patterson D F, Haskins M H
Abstract excerpt
Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder resulting from the defective lysosomal hydrolysis of specific galactolipids found primarily in myelin. This leads to severe neurological symptoms including seizures, hypotonia, blindness, and death, usually before 2 years of age in human patients. In addition to human patients, several animals, including dog, mouse, and monkey,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
