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Infantile form GM1 gangliosidosis with dilated cardiomyopathy: a case report

โœ Scribed by H-C Lin; F-J Tsai; W-C Shen; C-H Tsai; C-T Peng


Book ID
114812462
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
166 KB
Volume
89
Category
Article
ISSN
0803-5253

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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