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The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction

โœ Scribed by J.Patrick van der Voorn; Wout Kamphorst; MarjoS. van der Knaap; JamesM. Powers


Book ID
106073078
Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
784 KB
Volume
107
Category
Article
ISSN
0001-6322

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GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the