NewsNEUROLOGIAFriday, March 6, 2026 · March 6, 2026
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
WHY IT MATTERS
Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac...
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