Associated Papers
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Regmi N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.
Buckley AF et al.
Journal of Neuropathology and Experimental Neurology, 2023
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
ElMallah MK et al.
Pediatric Pulmonology, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 2019
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Desai AK et al.
Molecular Genetics and Metabolism, 2018
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
McIntosh P et al.
American Journal of Medical Genetics. Part A, 2017
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Prater SN et al.
Orphanet Journal of Rare Diseases, 2013
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
Case LE et al.
Molecular Genetics and Metabolism, 2008
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Prakalapakorn SG et al.
Journal of Pediatric Ophthalmology and Strabismus, 0