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Pompe disease
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Publications and studies (1195)
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Detection 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. (2026/09/01) ♡
- Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country. (2026/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities. (2026/08/07) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease. (2026/08/05) ♡
- High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population. (2026/08/01) ♡
- Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study. (2026/08/01) ♡
- A 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. (2026/08/01) ♡
- 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. Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance. (2026/07/31) ♡
- 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. Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement. (2026/07/28) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Disease duration and phenotypic heterogeneity in late-onset Pompe disease: Implications for individualized therapy. (2026/07/24) ♡
- AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease. (2026/07/23) ♡
- Home 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. (2026/07/20) ♡
- 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. Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. (2026/07/19) ♡
- 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. Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management. (2026/07/10) ♡
- 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. Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. (2026/07/08) ♡
- Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease. (2026/07/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaa(c.1826dupA) knock-in murine model. (2026/07/04) ♡
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness. (2026/07/01) ♡
- The cost-effectiveness of enzyme replacement therapies versus best supportive care for treating late onset Pompe disease in the UK NHS. (2026/07/01) ♡
- Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights. (2026/07/01) ♡
- 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. Cardiac magnetic resonance in Pompe disease: a systematic literature review. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sensory neuronopathy secondary to gene therapy with AT845 for Pompe disease. (2026/07/01) ♡
- Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients. (2026/07/01) ♡
- Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study. (2026/07/01) ♡
- Bayesian multivariate linear mixed-effects models with varied association structures. (2026/06/30) ♡
- Increasing Familial Retinoblastoma in High-Income Countries despite Stable Overall Incidence, 2017 to 2024. (2026/06/29) ♡
- 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 Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies. (2026/06/25) ♡
- Accumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease. (2026/06/23) ♡
- TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients. (2026/06/11) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Neuromuscular disorders: biomarkers, precision diagnosis, and targeted therapeutics. (2026/06/11) ♡
- Charge-driven lipid nanoparticle encapsulation of enzymes for enhanced ERT with reduced immunogenicity. (2026/06/10) ♡
- Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. (2026/06/09) ♡
- [Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy]. (2026/06/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study. (2026/06/01) ♡
- Increased Glycogenin-Exposed Residual Glycogen in Lysosomes Is the Early Pathological Finding in Asymptomatic Pompe Disease. (2026/06/01) ♡
- Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening. (2026/06/01) ♡
- Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden. (2026/06/01) ♡
- Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rhizobium radiobacter bloodstream infection associated with long-term central venous access in an infant with Pompe disease. (2026/06/01) ♡
- Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations. (2026/06/01) ♡
- Continuous glucose monitoring shows limited impact of daytime cornstarch on glycemia in glycogen storage disease type I. (2026/05/28) ♡
- Small Pulmonary Artery and Vein Volumes Independently Predict Oxygen Desaturation in Smokers. (2026/05/27) ♡
- Unfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an individually matched cohort study. (2026/05/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Pediatric Case of Rapidly Progressing Disseminated Human Adenovirus C1 Infection with Multiorgan Failure and Evidence of Intra-Host Variation. (2026/05/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A young woman with dramatic pulmonary hypertension and respiratory failure: a case report. (2026/05/19) ♡
- 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. Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. (2026/05/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined omalizumab and desensitization to control IgE-mediated hypersensitivity in enzyme replacement therapy for late-onset Pompe disease. (2026/05/14) ♡
- Myotonia: Recognition, Evaluation, and Differential Diagnosis. (2026/05/10) ♡
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