Understanding Pompe Disease: Diagnosis and Marketed Treatments

πρόσθεσε ένα νέο άρθρο Dịch vụ

2025-10-07 05:12:01 -

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...

0 Σχόλια 0 Μοιράστηκε 140 Views