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Pompe disease
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Publications and studies (1195)
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic dyslipidemias. (2026/05/01) ♡
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States. (2026/05/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms. (2026/05/01) ♡
- Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study. (2026/05/01) ♡
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study. (2026/04/28) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches. (2026/04/21) ♡
- Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds. (2026/04/14) ♡
- Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. (2026/04/09) ♡
- Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study. (2026/04/07) ♡
- A genome-edited isogenic human embryonic stem cell model of pompe disease recapitulates cardiac and skeletal muscle pathology. (2026/04/03) ♡
- Dietary and body composition profiles in Chinese pediatric late-onset Pompe disease: implications for nutritional management. (2026/04/02) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A 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. (2026/04/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Measuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies. (2026/04/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review. (2026/04/01) ♡
- Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data. (2026/04/01) ♡
- Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan. (2026/03/31) ♡
- Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation. (2026/03/25) ♡
- Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life. (2026/03/24) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. (2026/03/23) ♡
- Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies. (2026/03/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases. (2026/03/17) ♡
- Identification of alterations of immunometabolism associated with Pompe disease. (2026/03/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review. (2026/03/16) ♡
- Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease. (2026/03/09) ♡
- Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study. (2026/03/09) ♡
- Early-Onset Pompe Disease: an Imaging Spectrum. (2026/03/07) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease. (2026/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease. (2026/03/01) ♡
- Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease. (2026/03/01) ♡
- Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease. (2026/03/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Clinically 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. (2026/03/01) ♡
- Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI. (2026/03/01) ♡
- Comparing 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. (2026/03/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. What Is in the Myopathy Literature? (2026/03/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. (2026/02/26) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease. (2026/02/25) ♡
- Mapping lung function in late-onset Pompe disease using label-free functional MRI. (2026/02/25) ♡
- Real-Time MRI With Deep Learning for Efficient Evaluation of Neuromuscular Breathing Impairment. (2026/02/24) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions. (2026/02/17) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Seeking stability for gene addition in inborn errors of metabolism. (2026/02/16) ♡
- Neutral sp(2)-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases. (2026/02/15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease. (2026/02/14) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A roadmap for a patient-centred approach to Pompe disease management. (2026/02/14) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis. (2026/02/11) ♡
- Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis. (2026/02/10) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease. (2026/02/01) ♡
- Wnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models. (2026/02/01) ♡
- A respiratory signature of disease progression in the Pompe rat. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries. (2026/02/01) ♡
- The Value of Anti-Drug Antibody Detection in Discriminating Patients from Healthy Controls and Predicting the Gross Motor Functional State in Patients with Pompe Disease. (2026/02/01) ♡
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