Associated Papers
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.
Severa G et al.
Journal of Neuropathology and Experimental Neurology, 2026
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
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.
Martiniuk F et al.
Dna and Cell Biology Reports, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Fiumara A et al.
Molecular Genetics and Metabolism Reports, 2024
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2024
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
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
Diffusion tensor imaging of the brain in Pompe disease.
van den Dorpel JJA et al.
Journal of Neurology, 2023
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2022
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA et al.
Orphanet Journal of Rare Diseases, 2022
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Tokatly Latzer I et al.
Neuropediatrics, 2021
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.
Carlson-Stevermer J et al.
Nature Communications, 2020
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
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
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L et al.
Bmc Medical Genetics, 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
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Burlina AB et al.
International Journal of Neonatal Screening, 2019
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC et al.
Journal of Inherited Metabolic Disease, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Poelman E et al.
The Journal of Pediatrics, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Desai AK et al.
Molecular Genetics and Metabolism, 2018
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Elenga N et al.
Bmj Paediatrics Open, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy.
Quan JJ et al.
Chinese Medical Journal, 2017