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NewsCELLULAR AND MOLECULAR LIFE SCIENCES : CMLSMonday, April 6, 2026 · April 6, 2026

Identification of alterations of immunometabolism associated with 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 neuromuscular lysosomal storage disorder caused by mutations in the GAA gene, characterized by progressive glycogen accumulation in multiple tissues and autophagy and metabolic abnormalities. While immunological changes have largely been overlooked as part of PD's symptomatol...

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ResearchPubMedPompe disease

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