Pompe Disease Latest Advances

Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: May 14, 2026

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: April 08, 2026

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

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.

Journal: International journal of molecular sciences

Published: March 13, 2026

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

Journal: Journal of translational medicine

Published: March 10, 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

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.

Journal: Journal of inherited metabolic disease

Published: March 01, 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

Rhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease.

Journal: Le infezioni in medicina

Published: February 25, 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

Pompe Disease Latest Advances

Find the Latest Research About Pompe Disease

Clinical and genetic characteristics of infantile-onset Pompe disease​ and long-term efficacy of enzyme replacement therapy

Clinical and genetic characteristics of infantile-onset Pompe disease​ and long-term efficacy of enzyme replacement therapy

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

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.

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

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?

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.

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.

Rhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease.

Rhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease.

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.

Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy

Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy