Understanding Pompe Disease: Diagnosis and Marketed Treatments
Pompe's disease represents a glycogen storage disease type II, characterized by deficient lysosomal acid alpha-glucosidase (GAA) enzymatic activity leading to intralysosomal glycogen accumulation. The pathophysiology primarily involves myocardial and skeletal muscle tissue damage secondary to excessive glycogen deposition within cellular compartments. Phenotypic expression demonstrates...
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