Associated Papers
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 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
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.
Khazzeka A et al.
Jimd Reports, 2025
Concurrent Inclusion Body Myositis and Late Onset Pompe Disease: A Case Report.
Brun BN et al.
Muscle & Nerve, 2025
Results of orthodontic procedure in a patient with classic infantile Pompe disease.
Grimaldi CM et al.
Italian Journal of Pediatrics, 2025
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.
Mongini T et al.
Journal of Neurology, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Porcino M et al.
Neuromuscular Disorders : Nmd, 2025
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.
Moschetti M et al.
International Journal of Molecular Sciences, 2025
When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease.
Van Lierde C et al.
European Journal of Case Reports in Internal Medicine, 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
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G et al.
Orphanet Journal of Rare Diseases, 2024
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 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
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ et al.
Neuromuscular Disorders : Nmd, 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Carter C et al.
Frontiers in Genetics, 2024
Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.
Najac C et al.
Brain Communications, 2024
Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Avanti M et al.
Molecular Genetics and Metabolism, 2023
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy.
Kim KH et al.
Molecular Genetics and Metabolism Reports, 2023
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
Hannah WB et al.
Jimd Reports, 2023
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease.
Fiege L et al.
Pharmaceuticals (basel, Switzerland), 2023
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease.
Lika A et al.
Journal of Inherited Metabolic Disease, 2023
Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease.
Scheffers LE et al.
Journal of Inherited Metabolic Disease, 2023
Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease.
Scheffers LE et al.
International Journal of Cardiology, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P et al.
Current Issues in Molecular Biology, 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
Case report: Chronic pain in a pediatric patient with late-onset pompe disease.
Cao A et al.
Frontiers in Pain Research (lausanne, Switzerland), 2023
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Infantile Pompe disease with intrauterine onset: a case report and literature review.
Xi H et al.
Italian Journal of Pediatrics, 2022
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Dupé C et al.
European Journal of Neurology, 2022
Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.
Aguilar-González A et al.
International Journal of Molecular Sciences, 2022
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2022
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Bhatnagar C et al.
Neuromuscular Disorders : Nmd, 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
Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.
Claeys KG et al.
Cells, 2022
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.
Ravaglia S et al.
Frontiers in Cell and Developmental Biology, 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
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L et al.
Journal of Cardiovascular Development and Disease, 2021
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2021
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A et al.
Embo Molecular Medicine, 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
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Thuriot F et al.
Journal of Clinical Medicine, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021