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What researchers published on Pompe disease
138 papers, newest first.
Showing 20 of 138
High-Fat, High-Protein, Carbohydrate-Restricted Dietary Interventions in Pompe Disease: A Case Series with Long-Term Follow-Up.Annals of nutrition & metabolism
A novel technology-driven enzyme replacement therapy for Pompe disease.Molecular therapy. Advances
ReviewInfusion-associated reactions during enzyme replacement therapy in late-onset Pompe disease: a systematic review and proposed management algorithm.Molecular genetics and metabolism
Case reportRecurrent Reactions to Enzyme Replacement Therapy in Infantile-Onset Pompe Disease: A Case of Immunologic Barriers to Drug Tolerance.American journal of medical genetics. Part A
Case reportEarly Cardiac Involvement in Late-Onset Pompe Disease: A Case Report from an Iranian Consanguineous Family.Iranian journal of child neurology
Systematic reviewThe Genetic Landscape of Pompe Disease in the Middle East, North Africa, and Turkey (MENAT Region): A Systematic Review of GAA Variants and Genotype-Phenotype Correlation.International journal of molecular sciences
In plain wordsRead moreRead the paper on PubMedHome-Based Versus Hospital-Based Administration of Enzyme Replacement Therapy for Late-Onset Pompe Disease in Greece: A Cost-Utility and Budget Impact Analysis.Applied health economics and health policy
Efficacy and safety of cipaglucosidase alfa plus miglustat in Japanese adults with late-onset Pompe disease: a case series from clinical trials.BMJ neurology open
ReviewInfantile-Onset Pompe Disease: Current Therapeutic Landscape, Clinical Challenges, and Future Horizons.Cureus
Of Pompe and Circumstance: A Case Review of Late Onset Pompe Disease in a 52-Year-Old Male.Case reports in rheumatology
Evaluation of Pompe Disease from a Broad and Systemic Perspective.Journal of clinical practice and research
Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach.Brain pathology (Zurich, Switzerland)
Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant.Stem cell research
Two novel GAA missense variants and a known VUS in pompe disease: Functional characterization and pharmacological chaperone therapy.Genes & diseases
A High-Fat, High-Protein, Carbohydrate-Restricted Dietary Interventions in Pompe Disease: A Case Series with Long-Term Follow-Up.Annals of nutrition & metabolism
Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study.Neuromuscular disorders : NMD
Enzyme replacement therapy (ERT) combined with transient low-dose methotrexate (TLD-MTX) results in age- and disease-dependent immune profile changes in Infantile- vs. late-onset Pompe disease patients.Frontiers in immunology
Case reportLate-Onset Pompe Disease.The New England journal of medicine
Observational studyScreening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study).Sleep & breathing = Schlaf & Atmung
Corrigendum to "Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina" [Mol. Genet. Med. 149 (1-2) (2026) 110252].Molecular genetics and metabolism