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Pompe disease
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Publications and studies (1195)
- Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease. (2024/10/22) ♡
- Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease. (2024/10/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report. (2024/10/08) ♡
- Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry. (2024/10/01) ♡
- Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry. (2024/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease. (2024/10/01) ♡
- 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. Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data. (2024/10/01) ♡
- A specific serum lipid signature characterizes patients with glycogen storage disease type Ia. (2024/10/01) ♡
- Higher small pulmonary artery and vein volume on computed tomography is associated with mortality in current and former smokers. (2024/10/01) ♡
- 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. Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis. (2024/09/30) ♡
- Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers. (2024/09/28) ♡
- Role of glycogen metabolism in Clostridioides difficile virulence. (2024/09/25) ♡
- Health-Related Quality-of-Life Utility Values in Adults With Late-Onset Pompe Disease: Analyses of EQ-5D Data From the PROPEL Clinical Trial. (2024/09/18) ♡
- Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study. (2024/09/17) ♡
- An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records. (2024/09/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation. (2024/09/14) ♡
- Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease. (2024/09/12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease. (2024/09/08) ♡
- 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. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. (2024/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset. (2024/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database. (2024/09/01) ♡
- 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. Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease. (2024/09/01) ♡
- 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? (2024/09/01) ♡
- 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. Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems. (2024/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Diagnosis and treatment of late onset Pompe disease: a case report]. (2024/09/01) ♡
- 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. Neurological glycogen storage diseases and emerging therapeutics. (2024/09/01) ♡
- 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. Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs). (2024/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. (2024/08/30) ♡
- Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. (2024/08/23) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Pombiliti and Opfolda: shaping the future of adult late-onset pompe disease: an editorial. (2024/08/22) ♡
- Assessing Gene Therapy Efficacy in Infantile-Onset Pompe Disease: Myocardial Native T1 Values of CMR. (2024/08/21) ♡
- Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022. (2024/08/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diabetes in a Patient with Glycogen Storage Disease Type 1a. (2024/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry. (2024/08/01) ♡
- 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. Restoring immune balance with Tregitopes: A new approach to treating immunological disorders. (2024/08/01) ♡
- Influenza and COVID-19 Vaccination Rates Among Children Receiving Long-Term Ventilation. (2024/08/01) ♡
- Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy. (2024/07/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report. (2024/07/18) ♡
- Bioluminescent Assay for the Quantification of Cellular Glycogen Levels. (2024/07/17) ♡
- Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease. (2024/07/15) ♡
- 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 rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem. (2024/07/10) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Precision medicine in action for Pompe disease. (2024/07/09) ♡
- Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease. (2024/07/01) ♡
- Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials. (2024/06/26) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Inborn errors of carbohydrate metabolism. (2024/06/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Author Correction: Degeneration of muscle spindles in a murine model of Pompe disease. (2024/06/11) ♡
- Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. (2024/06/01) ♡
- 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. Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management. (2024/05/30) ♡
- 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. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. (2024/05/21) ♡
- Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells. (2024/05/21) ♡
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