Pompe Disease Latest Advances

A Protocol for Multidisciplinary Rehabilitation Combined with Enzyme Replacement Therapy for Ventilator Weaning in Late-Onset Pompe Disease.

Journal: Journal of visualized experiments : JoVE

Published: August 18, 2026

Pompe Disease: From a Cardiovascular Lens.

Journal: Cardiology in review

Published: August 14, 2026

Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.

Journal: Molecular genetics and metabolism

Published: August 04, 2026

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.

Journal: Journal of comparative effectiveness research

Published: July 15, 2026

Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: July 01, 2026

Bayesian multivariate linear mixed-effects models with varied association structures.

Journal: Statistical methods in medical research

Published: June 30, 2026

Nociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates.

Journal: Journal of neurology

Published: June 10, 2026

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View.

Journal: Metabolites

Published: May 28, 2026

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Journal: International journal of molecular sciences

Published: May 20, 2026

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

AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.

Journal: EClinicalMedicine

Published: May 13, 2026

Disease duration and phenotypic heterogeneity in late-onset Pompe disease: Implications for individualized therapy.

Journal: Molecular genetics and metabolism

Published: May 12, 2026

Pompe Disease Latest Advances

Find the Latest Research About Pompe Disease

A Protocol for Multidisciplinary Rehabilitation Combined with Enzyme Replacement Therapy for Ventilator Weaning in Late-Onset Pompe Disease.

A Protocol for Multidisciplinary Rehabilitation Combined with Enzyme Replacement Therapy for Ventilator Weaning in Late-Onset Pompe Disease.

Pompe Disease: From a Cardiovascular Lens.

Pompe Disease: From a Cardiovascular Lens.

Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.

Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.

A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.

Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.

Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.

Bayesian multivariate linear mixed-effects models with varied association structures.

Bayesian multivariate linear mixed-effects models with varied association structures.

Nociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates.

Nociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates.

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View.

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View.

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

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

AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.

AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.

Disease duration and phenotypic heterogeneity in late-onset Pompe disease: Implications for individualized therapy.

Disease duration and phenotypic heterogeneity in late-onset Pompe disease: Implications for individualized therapy.

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