Pompe Disease Latest Advances

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.

Journal: Journal of patient experience

Published: March 27, 2026

Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.

Journal: Neurology

Published: March 05, 2026

Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.

Journal: Organic & biomolecular chemistry

Published: March 04, 2026

What Is in the Myopathy Literature?

Journal: Journal of clinical neuromuscular disease

Published: March 02, 2026

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.

Journal: Journal of comparative effectiveness research

Published: February 27, 2026

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Journal: Molecular genetics and metabolism

Published: February 20, 2026

Early-Onset Pompe Disease: an Imaging Spectrum.

Journal: QJM : monthly journal of the Association of Physicians

Published: February 19, 2026

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Journal: Health technology assessment (Winchester, England)

Published: February 16, 2026

Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.

Journal: Molecular genetics and metabolism

Published: January 25, 2026

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Journal: Molecular genetics and metabolism

Published: January 21, 2026

Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.

Journal: Orphanet journal of rare diseases

Published: January 12, 2026

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

Pompe Disease Latest Advances

Find the Latest Research About Pompe Disease

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.

Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.

Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.

Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.

Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.

What Is in the Myopathy Literature?

What Is in the Myopathy Literature?

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Early-Onset Pompe Disease: an Imaging Spectrum.

Early-Onset Pompe Disease: an Imaging Spectrum.

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.

Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.

Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.

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.

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.