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Pompe Disease: Pathogenesis and Diagnosis by monica is a document available to read on EtoBox.

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to glycogen accumulation in tissues, particularly muscle, resulting in progressive muscle weakness and respiratory failure. The disease is classified into infantile and late-onset forms, with early diagnosis being crucial for managing symptoms and preventing organ damage. This review discusses the pathogenesis, clinical phenotypes, molecular genetics, diagnosis, and potential biomarkers for PD.

Author

monica

Language

EN