What researchers published on Pompe disease
137 papers, newest first.
Showing 40 of 137
Not labelled yetA 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 PubMedNot labelled yetHome-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
Not labelled yetEfficacy 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
Not labelled yetOf Pompe and Circumstance: A Case Review of Late Onset Pompe Disease in a 52-Year-Old Male.Case reports in rheumatology
Not labelled yetEvaluation of Pompe Disease from a Broad and Systemic Perspective.Journal of clinical practice and research
Not labelled yetIdentifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach.Brain pathology (Zurich, Switzerland)
Not labelled yetGeneration 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
Not labelled yetTwo novel GAA missense variants and a known VUS in pompe disease: Functional characterization and pharmacological chaperone therapy.Genes & diseases
Not labelled yetA High-Fat, High-Protein, Carbohydrate-Restricted Dietary Interventions in Pompe Disease: A Case Series with Long-Term Follow-Up.Annals of nutrition & metabolism
Not labelled yetNocturnal 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
Not labelled yetEnzyme 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
Not labelled yetCorrigendum 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
Not labelled yetPreliminary clinical application of two-dimensional speckle tracking echocardiography in adult-onset glycogen storage disease type II.Archives of physiology and biochemistry
Not labelled yetThe Effect of Anti-drug Antibodies on the Bioavailability of Alglucosidase Alfa in Classic Infantile Pompe Disease.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
ReviewGenome Editing for Glycogen Storage Diseases.Journal of inherited metabolic disease
Not labelled yetEpilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurology. Genetics
Not labelled yetEarly detection in action: developing and refining newborn screening for Pompe disease in North Carolina.Molecular genetics and metabolism
Not labelled yetFunctional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.Molecular genetics and metabolism
Not labelled yetNociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates.Journal of neurology
Not labelled yetGAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.Molecular therapy. Advances
Not labelled yetA Protocol for Multidisciplinary Rehabilitation Combined with Enzyme Replacement Therapy for Ventilator Weaning in Late-Onset Pompe Disease.Journal of visualized experiments : JoVE
Not labelled yetPompe Disease: From a Cardiovascular Lens.Cardiology in review
Observational studyExpiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities.Orphanet journal of rare diseases
Not labelled yetAAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.EClinicalMedicine
Not labelled yetDisease duration and phenotypic heterogeneity in late-onset Pompe disease: Implications for individualized therapy.Molecular genetics and metabolism
ReviewDefining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.Orphanet journal of rare diseases
Systematic reviewCentral nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology
In plain wordsRead moreRead the paper on PubMedNot labelled yetHome Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
Not labelled yetReal-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.European journal of neurology
Not labelled yetA 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 of comparative effectiveness research
ReviewA Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences
Not labelled yetNeonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaac.1826dupA knock-in murine model.Molecular genetics and metabolism
Not labelled yetEvaluation of electrical impedance myography as a noninvasive musculoskeletal biomarker in infantile- and late-onset Pompe disease.Genetics in medicine : official journal of the American College of Medical Genetics