NewsDISEASE MODELS & MECHANISMSWednesday, March 18, 2026 · March 18, 2026
Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.
WHY IT MATTERS
Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
Pompe disease (PD) is a rare autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Pathogenic GAA variants result in enzyme dysfunction and glycogen storage in cardiac, skeletal and smooth muscle, as well as in the central nervo...
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