Pompe Disease Latest Advances

Response to: Correspondence on 'Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements' by Barzel et al.

Journal: European journal of hospital pharmacy : science and practice

Published: December 31, 2025

EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA.

Journal: Neuropediatrics

Published: December 26, 2025

Correspondence on "Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements" by Barzel et al.

Journal: European journal of hospital pharmacy : science and practice

Published: December 23, 2025

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: December 15, 2025

Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.

Journal: Pediatric cardiology

Published: December 09, 2025

A respiratory signature of disease progression in the Pompe rat.

Journal: Journal of neurophysiology

Published: December 05, 2025

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: November 09, 2025

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: November 09, 2025

A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.

Journal: Journal of neuromuscular diseases

Published: October 28, 2025

Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness.

Journal: Journal of neuromuscular diseases

Published: October 22, 2025

Editorial Note: The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease.

Journal: PloS one

Published: October 22, 2025

Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.

Journal: Journal of neuromuscular diseases

Published: October 21, 2025