What researchers published on Pompe disease
137 papers, newest first.
Showing 137 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
Not labelled yetImpact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.Indian journal of pediatrics
Not labelled yetNeonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy
Not labelled yetBayesian multivariate linear mixed-effects models with varied association structures.Statistical methods in medical research
Not labelled yetManaging Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.European journal of neurology
Not labelled yetAccumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease.Acta neuropathologica communications
Not labelled yetPediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.Molecular genetics and metabolism
Not labelled yetHigh prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.Molecular genetics and metabolism
Case reportRhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease.Le infezioni in medicina
Not labelled yetTRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.Journal of translational medicine
Case reportWhen 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease.The Medical journal of Australia
Not labelled yetLongitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study.Journal of cachexia, sarcopenia and muscle
Not labelled yetQuantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.Journal of inherited metabolic disease
Not labelled yetUnfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an individually matched cohort study.Orphanet journal of rare diseases
Case reportSensory neuronopathy secondary to gene therapy with AT845 for Pompe disease.Neuromuscular disorders : NMD
Case reportCombined omalizumab and desensitization to control IgE-mediated hypersensitivity in enzyme replacement therapy for late-onset Pompe disease.Orphanet journal of rare diseases
Not labelled yet[Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy].Zhonghua er ke za zhi = Chinese journal of pediatrics
Not labelled yetClinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition
Not labelled yetThe Value of Anti-Drug Antibody Detection in Discriminating Patients from Healthy Controls and Predicting the Gross Motor Functional State in Patients with Pompe Disease.Iranian journal of allergy, asthma, and immunology
Not labelled yetDetection of Altered Muscle Glycogen- and NOE-Weighted CEST MRI Signals in an Acid Alpha-Glucosidase-Deficient Mouse Model of Pompe Disease Using QUASS-Enhanced Multi-Pool Quantitative CEST (QCEST) Imaging.Magnetic resonance in medicine
ReviewPompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences
Systematic reviewCardiac magnetic resonance in Pompe disease: a systematic literature review.La Radiologia medica
In plain wordsRead moreRead the paper on PubMedNot labelled yetCost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan.International journal of neonatal screening
Not labelled yetDietary and body composition profiles in Chinese pediatric late-onset Pompe disease: implications for nutritional management.Frontiers in medicine
Not labelled yetAntibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.Genetics in medicine : official journal of the American College of Medical Genetics
Not labelled yetOver ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.Molecular genetics and metabolism
ReviewEpigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.Molecular metabolism
Not labelled yetRestoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid.Cellular & molecular biology letters
Not labelled yetMultidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study.Orphanet journal of rare diseases
Not labelled yetEarly enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.Molecular genetics and metabolism
Not labelled yetA genome-edited isogenic human embryonic stem cell model of pompe disease recapitulates cardiac and skeletal muscle pathology.Molecular biology reports
Not labelled yetIncreased Glycogenin-Exposed Residual Glycogen in Lysosomes Is the Early Pathological Finding in Asymptomatic Pompe Disease.Muscle & nerve
Case reportManagement of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review.Frontiers in allergy
ReviewGenetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies.Genes
Not labelled yetPatient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.Journal of patient experience
Case reportIntegration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.Molecular genetics and metabolism reports
Not labelled yetMapping lung function in late-onset Pompe disease using label-free functional MRI.iScience
Not labelled yetAlglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study.Molecular genetics and metabolism
Not labelled yetIdentification of alterations of immunometabolism associated with Pompe disease.Cellular and molecular life sciences : CMLS
Not labelled yetImpacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.ClinicoEconomics and outcomes research : CEOR
Not labelled yetGait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease.Journal of neuroengineering and rehabilitation
Not labelled yetEarly-Onset Pompe Disease: an Imaging Spectrum.QJM : monthly journal of the Association of Physicians
ReviewComprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.Frontiers in neurology
Not labelled yetLongitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.Neurology
Not labelled yetDesign of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.Organic & biomolecular chemistry
ReviewMiglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.Therapeutic advances in rare disease
Not labelled yetComparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.Journal of comparative effectiveness research
Not labelled yetGeneration and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.Orphanet journal of rare diseases
Systematic reviewLessons from late-onset Pompe disease identified by Newborn screening: A systematic review.Molecular genetics and metabolism
In plain wordsRead moreRead the paper on PubMedNot labelled yetMapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.Translational research : the journal of laboratory and clinical medicine
Case reportShort-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.Reports (MDPI)
Not labelled yetPompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.Frontiers in molecular biosciences
Systematic reviewEnzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.Health technology assessment (Winchester, England)
In plain wordsRead moreRead the paper on PubMedReviewA roadmap for a patient-centred approach to Pompe disease management.Journal of neurology
Observational studyFirst multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease.Journal of neurology
Not labelled yetGastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis.Orphanet journal of rare diseases
ReviewMeasuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies.Advances in therapy
Randomised trialClinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL study.Neuromuscular disorders : NMD
In plain wordsRead moreRead the paper on PubMedNot labelled yetUrinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.Neuromuscular disorders : NMD
Not labelled yetSafety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials.Therapeutic advances in rare disease
Not labelled yetLongitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.Disease models & mechanisms
Not labelled yetEarly Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.JIMD reports
Systematic reviewInsights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.Frontiers in immunology
In plain wordsRead moreRead the paper on PubMedReviewA comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.Current opinion in immunology
Not labelled yetGMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.Journal of inherited metabolic disease
Not labelled yetQuantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.Journal of inherited metabolic disease
Case reportSuccessful desensitization to alglucosidase alfa in a very young infant with Pompe disease.Journal of pediatric endocrinology & metabolism : JPEM
Not labelled yetIdentification of miRNAs Associated with Infantile-Onset Pompe Disease.Molecular syndromology
Not labelled yetAustrian Pompe Outcome Consensus (APOC): a national Delphi study.Orphanet journal of rare diseases
Not labelled yetEarly initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.Genetics in medicine open
Case reportRapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.Pediatric cardiology
Not labelled yetNovel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.Molecular genetics and metabolism
Not labelled yetPlasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine
Case reportIntegrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report.Molecular genetics and metabolism reports
Not labelled yetResponse to: Correspondence on 'Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements' by Barzel et al.European journal of hospital pharmacy : science and practice
Case reportEnzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease.International breastfeeding journal
Not labelled yetEvaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.Neuropediatrics
ReviewDiagnosis, management and monitoring of patients with Pompe disease in the UK.BMJ neurology open
GuidelineRecommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.Neurologia
In plain wordsRead moreRead the paper on PubMedReviewNew advances in treating late-onset Pompe Disease: A narrative review.European journal of pediatrics
Not labelled yetCorrespondence on "Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements" by Barzel et al.European journal of hospital pharmacy : science and practice
Not labelled yetNeutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.European journal of medicinal chemistry
Not labelled yetCorrection: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
Not labelled yetFocused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease mice.Molecular genetics and metabolism
Not labelled yetA respiratory signature of disease progression in the Pompe rat.Journal of neurophysiology
ReviewEnzyme Replacement Therapy & Other Therapeutic Frontiers in Infantile Metabolic Disorders.NeoReviews
Not labelled yetLate-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.Orphanet journal of rare diseases
Not labelled yetElevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.JIMD reports
Not labelled yetCan Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
Observational studyLong-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.Orphanet journal of rare diseases
Case reportCipaglucosidase alfa plus miglustat in Pompe disease: two non-ambulatory patients switching from high‑dose, high-frequency alglucosidase alfa.Neuromuscular disorders : NMD
Not labelled yetThe cost-effectiveness of enzyme replacement therapies versus best supportive care for treating late onset Pompe disease in the UK NHS.The European journal of health economics : HEPAC : health economics in prevention and care
Case reportPresymptomatic late-onset Pompe disease: Optimizing the timing of treatment.Revue neurologique
Not labelled yetWhen the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease.European journal of case reports in internal medicine
Not labelled yetHypertrophic cardiomyopathy in Pompe disease following avalglucosidase alfa therapy.Anales de pediatria
Case reportStatin-disclosed acid maltase deficiency.Journal of internal medicine
Case reportRenal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II.American journal of nephrology
Not labelled yetEnhanced enzyme activity after incubation with zinc can be used to distinguish heterozygotes of Pompe's disease.Pediatric research