NewsINTERNATIONAL JOURNAL OF MOLECULAR SCIENCESMonday, May 4, 2026 · May 4, 2026
Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.
WHY IT MATTERS
Recent peer-reviewed research on Pompe disease that may be relevant for patients and caregivers.
Pompe disease (PD) is a neuromuscular autosomal recessive disorder caused by mutation in the GAA gene, which encodes acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing glycogen to glucose. Deficiency of this enzyme leads to pathological accumulation of glycogen in almost all tissu...
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