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Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

✍ Scribed by Murphy, Rinki; Ellard, Sian; Hattersley, Andrew T


Book ID
119968987
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
440 KB
Volume
4
Category
Article
ISSN
1745-8366

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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