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Uncommon case of type II glycogenosis

✍ Scribed by Th. Barsy; G. Ferrière; E. Fernandez-Alvarez


Book ID
104888987
Publisher
Springer-Verlag
Year
1979
Tongue
English
Weight
461 KB
Volume
47
Category
Article
ISSN
0001-6322

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Glycogenosis type II (acid maltase defic
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Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous.

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