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 bimodal...
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