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Pompe disease
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Publications (1018)
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02). (2024/04/01) ♡
- Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. (2024/04/01) ♡
- Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study. (2024/03/01) ♡
- 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. Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop. (2024/03/01) ♡
- 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. Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle. (2024/02/01) ♡
- 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. Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial. (2024/02/01) ♡
- Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease. (2024/02/01) ♡
- Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose. (2024/01/18) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease. (2024/01/16) ♡
- An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion. (2024/01/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. (2024/01/08) ♡
- Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease. (2024/01/04) ♡
- Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa(-/-) mice. (2024/01/01) ♡
- 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. Gene therapy for glycogen storage diseases. (2024/01/01) ♡
- [Diagnosis and Management of Late-Onset Pompe Disease]. (2024/01/01) ♡
- The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease. (2024/01/01) ♡
- Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry. (2024/01/01) ♡
- Remodeling of the Cardiac Extracellular Matrix Proteome During Chronological and Pathological Aging. (2024/01/01) ♡
- Abbreviation of Desensitization Protocol for Pediatric Patients with Lysosomal Storage Diseases Receiving Enzyme Replacement Therapy. (2024/01/01) ♡
- Autophagy of Glycogen Is Non-Selective in Komagataella phaffii. (2024/01/01) ♡
- Lysosomal storage diseases. (2024/01/01) ♡
- Pompe disease: a lesson to learn. (2024/01/01) ♡
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. (2023/12/25) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease. (2023/12/20) ♡
- Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study. (2023/12/20) ♡
- Pompe disease in China: clinical and molecular characteristics. (2023/12/14) ♡
- 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 for late-onset Pompe disease. (2023/12/12) ♡
- Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry. (2023/12/06) ♡
- Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease. (2023/12/01) ♡
- Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000-L Scale in Participants with Pompe Disease: A Phase 3/4 Open-Label Study. (2023/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T. (2023/12/01) ♡
- Two fluorimetric determinations of acid α-glucosidase activity in dried blood spot: Pompe disease in Iranian population. (2023/12/01) ♡
- 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. Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects. (2023/12/01) ♡
- Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study. (2023/12/01) ♡
- Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region. (2023/11/23) ♡
- Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative-Qualitative Study. (2023/11/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion. (2023/11/03) ♡
- Effects of enzyme replacement therapy on bone density in late onset Pompe disease. (2023/11/01) ♡
- Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice. (2023/11/01) ♡
- Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II). (2023/11/01) ♡
- The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI. (2023/11/01) ♡
- 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. Gene therapy for primary myopathies: literature review and prospects. (2023/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond. (2023/10/27) ♡
- Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases. (2023/10/18) ♡
- Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up. (2023/10/11) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: Chronic pain in a pediatric patient with late-onset pompe disease. (2023/10/06) ♡
- Population Pharmacokinetic Modeling and Determination of Individual Exposure to Avalglucosidase Alfa in Adolescent and Adult Patients With Late-Onset Pompe Disease: Analysis of Pooled Data From Phase I to III Clinical Trials. (2023/10/01) ♡
- Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study. (2023/10/01) ♡
- 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. Current avenues of gene therapy in Pompe disease. (2023/10/01) ♡
- The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study. (2023/09/25) ♡
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