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Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment

โœ Scribed by Norio Sakai

Book ID
113498761
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
83 KB
Volume
31
Category
Article
ISSN
0387-7604

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Molecular genetics of Krabbe disease (gl
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
โœ David A. Wenger; Mohammad A. Rafi; Paola Luzi ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 166 KB ๐Ÿ‘ 2 views

Galactocerebrosidase (GALC) is a lysosomal b-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 also call