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Pompe disease
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Publications and studies (1195)
- 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) ♡
- Phosphorus Dendrimers for Metal-Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher Disease. (2023/09/21) ♡
- 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. Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review. (2023/09/19) ♡
- 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. Glycogen storage diseases. (2023/09/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study. (2023/09/01) ♡
- Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions. (2023/09/01) ♡
- GAA deficiency disrupts distal airway cells in Pompe disease. (2023/09/01) ♡
- Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening. (2023/09/01) ♡
- 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. Glycogen-binding protein STBD1: Molecule and role in pathophysiology. (2023/09/01) ♡
- Effect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy. (2023/09/01) ♡
- 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. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. (2023/09/01) ♡
- Rapid ultra-performance liquid chromatography-tandem mass spectrometry method for the simultaneous determination of three characteristic urinary saccharide metabolites in patients with glycogen storage diseases (type Ⅰb and Ⅱ). (2023/09/01) ♡
- Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel. (2023/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for late-onset Pompe disease in Internal Medicine departments in Spain. (2023/08/31) ♡
- Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022. (2023/08/29) ♡
- 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. Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement. (2023/08/26) ♡
- 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. Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes. (2023/08/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease. (2023/08/23) ♡
- AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice. (2023/08/22) ♡
- 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 Late-Onset Pompe Disease. (2023/08/22) ♡
- Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS. (2023/08/17) ♡
- Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy. (2023/08/17) ♡
- Precocious puberty in patients with Pompe disease. (2023/08/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical manifestations and MRI features of Danon disease: a case series. (2023/08/11) ♡
- Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease. (2023/08/08) ♡
- Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases. (2023/08/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing. (2023/08/07) ♡
- 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. Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. (2023/08/07) ♡
- 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. From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease. (2023/08/05) ♡
- Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. (2023/08/04) ♡
- Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease. (2023/08/01) ♡
- Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings. (2023/08/01) ♡
- Diaphragm pacing and independent breathing in individuals with severe Pompe disease. (2023/07/31) ♡
- 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. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. (2023/07/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypertrophy cardiomyopathy: A case of infantile-onset Pompe disease in cardiac magnetic resonance findings. (2023/07/17) ♡
- Design and Pharmacological Chaperone Effects of N-(4'-Phenylbutyl)-DAB Derivatives Targeting the Lipophilic Pocket of Lysosomal Acid α-Glucosidase. (2023/07/13) ♡
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