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Pompe disease
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Publications and studies (1195)
- Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance. (2019/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Pompe disease associated with polyneuropathy. (2019/12/01) ♡
- 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. Significance of Asymptomatic Hyper Creatine-Kinase Emia. (2019/12/01) ♡
- Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene. (2019/12/01) ♡
- 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. Exercise therapy for muscle and lower motor neuron diseases. (2019/12/01) ♡
- A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells. (2019/11/29) ♡
- Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. (2019/11/05) ♡
- Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. (2019/11/01) ♡
- Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. (2019/11/01) ♡
- GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. (2019/11/01) ♡
- 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 oral and craniofacial findings in patients with Fabry disease or Pompe disease. (2019/11/01) ♡
- 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. Engineered skeletal muscles for disease modeling and drug discovery. (2019/11/01) ♡
- 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 of Pompe disease with motor neuronopathy. (2019/11/01) ♡
- Response: Late-onset Pompe disease manifests in the brain. (2019/10/16) ♡
- Screening for late-onset Pompe disease in Poland. (2019/10/01) ♡
- 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. Gene therapy for glycogen storage diseases. (2019/10/01) ♡
- Bright tongue sign in patients with late-onset Pompe disease. (2019/10/01) ♡
- 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. Gene Therapy for Pompe Disease: The Time is now. (2019/10/01) ♡
- Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand. (2019/09/11) ♡
- 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. Biomedical Implications of Autophagy in Macromolecule Storage Disorders. (2019/09/06) ♡
- Validation of the Social Security Administration Life Tables (2004-2014) in Localized Prostate Cancer Patients within the Surveillance, Epidemiology, and End Results database. (2019/09/01) ♡
- Micropatterned substrates with physiological stiffness promote cell maturation and Pompe disease phenotype in human induced pluripotent stem cell-derived skeletal myocytes. (2019/09/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis. (2019/09/01) ♡
- Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity. (2019/09/01) ♡
- Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease. (2019/09/01) ♡
- Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation. (2019/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT. (2019/09/01) ♡
- AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice. (2019/08/31) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series. (2019/08/22) ♡
- Infantile onset Pompe disease presenting with non-immune hydrops fetalis. (2019/08/21) ♡
- 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. Immunomodulatory, liver depot gene therapy for Pompe disease. (2019/08/01) ♡
- 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. Liver induced transgene tolerance with AAV vectors. (2019/08/01) ♡
- 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. Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. (2019/08/01) ♡
- Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. (2019/08/01) ♡
- 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. New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. (2019/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial. (2019/08/01) ♡
- The nature of respiratory muscle weakness in patients with late-onset Pompe disease. (2019/08/01) ♡
- A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. (2019/08/01) ♡
- Infantile-onset Pompe disease: Diagnosis and management. (2019/08/01) ♡
- Efficacy of Quantitative Muscle Ultrasound Using Texture-Feature Parametric Imaging in Detecting Pompe Disease in Children. (2019/07/22) ♡
- Mobility assessment using wearable technology in patients with late-onset Pompe disease. (2019/07/22) ♡
- Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey. (2019/07/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of Oncological Outcomes After Radical Prostatectomy According to Preoperative and Postoperative Cancer of the Prostate Risk Assessment Scores: Results from a Large, Two-center Experience. (2019/07/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Are the Results of the Prostate Testing for Cancer and Treatment Trial Applicable to Contemporary Prostate Cancer Patients Treated with Radical Prostatectomy? Results from Two High-volume European Institutions. (2019/07/01) ♡
- Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease). (2019/07/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of serum microRNAs as potential biomarkers in Pompe disease. (2019/07/01) ♡
- Editorial for focused issue "Pompe disease: from basics to current and emerging therapies". (2019/07/01) ♡
- Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease. (2019/07/01) ♡
- Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease. (2019/07/01) ♡
- 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. Molecular genetics of Pompe disease: a comprehensive overview. (2019/07/01) ♡
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