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EAN 2024 | Jun 29, 2024 - Jul 2, 2024
Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic lysosomal storage disease with a wide range of clinical phenotypes. Two pathogenic variants of the acid α-glucosidase (GAA) gene lead to an inability to degrade glycogen and lysosomal accumulation can affect all muscle types.
