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 G
โฆ LIBER โฆ
Molecular basis of globoid cell leukodystrophy in Irish setters
โ Scribed by Royal A. McGraw; K. Paige Carmichael
- Book ID
- 113938541
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 106 KB
- Volume
- 171
- Category
- Article
- ISSN
- 1090-0233
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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
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