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Pompe disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (18)Randomized trial (10)Clinical trial (201)Review article (174)Early study (phase 1 or 2) (16)Case report (118)Laboratory or animal research (44)Commentary or editorial (34) Only studies currently recruiting participants (29)

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Publications and studies (1195)

• 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. Pros and cons of different ways to address dysfunctional autophagy in 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. Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in 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. Newborn screening: Taiwanese experience. (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. Nutrition and exercise in 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. Long-term outcome and unmet needs in infantile-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. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. (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. Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. (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. Diagnostic tools in late onset Pompe disease (LOPD). (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. Progress and challenges of gene therapy for 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. Liver depot gene therapy for 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. An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. (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. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy. (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. Challenges in treating Pompe disease: an industry perspective. (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. Pompe disease: what are we missing? (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. The role of patient advocacy organizations in shaping medical research: the Pompe model. (2019/07/01) ♡
• Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities. (2019/07/01) ♡
• Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy. (2019/06/21) ♡
• Late-onset Pompe disease manifests in the brain. (2019/06/21) ♡
• Rehabilitation management of Pompe disease, from childhood through adulthood: A systematic review of the literature. (2019/06/18) ♡
• Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center. (2019/06/01) ♡
• Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype. (2019/06/01) ♡
• White matter lesions in treated late onset Pompe disease are not different to matched controls. (2019/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease. (2019/05/30) ♡
• Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy. (2019/05/10) ♡
• 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. Advances in imaging of brain abnormalities in neuromuscular disease. (2019/05/06) ♡
• A Slow-Digesting Carbohydrate Diet during Rat Pregnancy Protects Offspring from Non-Alcoholic Fatty Liver Disease Risk through the Modulation of the Carbohydrate-Response Element and Sterol Regulatory Element Binding Proteins. (2019/04/14) ♡
• An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. (2019/04/01) ♡
• microRNAs as biomarkers in Pompe disease. (2019/03/01) ♡
• The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. (2019/03/01) ♡
• Genetic basis of hypertrophic cardiomyopathy in children. (2019/03/01) ♡
• A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease. (2019/03/01) ♡
• Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis. (2019/03/01) ♡
• Inhibitory effect of phloroglucinol on α-glucosidase: Kinetics and molecular dynamics simulation integration study. (2019/03/01) ♡
• 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. Lysosomal storage disorders affecting the heart: a review. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy. (2019/03/01) ♡
• 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. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease. (2019/03/01) ♡
• Voxel-Wise Longitudinal Parametric Response Mapping Analysis of Chest Computed Tomography in Smokers. (2019/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease. (2019/02/01) ♡
• Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant. (2019/02/01) ♡
• Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism. (2019/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease. (2019/01/01) ♡
• Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Airway wall thickening on CT: Relation to smoking status and severity of COPD. (2019/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy. (2019/01/01) ♡
• 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. Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation. (2019/01/01) ♡
• 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. Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy (2019-10-16) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. (2019-09-26) ♡

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