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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. Cardiac involvement in Lysosomal Storage Diseases. (2020/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness. (2020/06/25) ♡
• Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy. (2020/06/22) ♡
• Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation. (2020/06/11) ♡
• 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. [Insulin pump treatment: For whom and how to set it up on an outpatient?]. (2020/06/10) ♡
• Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease. (2020/06/10) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study. (2020/06/06) ♡
• An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease. (2020/06/01) ♡
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. (2020/06/01) ♡
• 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. [The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]. (2020/05/30) ♡
• Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures. (2020/05/01) ♡
• 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. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. (2020/05/01) ♡
• 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. Association between Intracranial Arterial Dolichoectasia and Cerebral Small Vessel Disease and Its Underlying Mechanisms. (2020/05/01) ♡
• 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 for Pompe Disease. (2020/04/05) ♡
• Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach. (2020/04/01) ♡
• The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan. (2020/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. (2020/03/14) ♡
• Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina. (2020/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. No Disadvantage to Insulin Pump Off vs Pump On During Intermittent High-Intensity Exercise in Adults With Type 1 Diabetes. (2020/03/01) ♡
• Profiles of plant core-fucosylated N-glycans of acid alpha-glucosidases produced in transgenic rice cell suspension cultures treated with eight different conditions. (2020/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. (2020/02/14) ♡
• Lessons Learned from Pompe Disease Newborn Screening and Follow-up. (2020/02/14) ♡
• The First Year Experience of Newborn Screening for Pompe Disease in California. (2020/02/07) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease. (2020/02/01) ♡
• 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 Approaches for the Treatment of Pompe Disease. (2020/02/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease. (2020/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease. (2020/01/31) ♡
• 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. Sharpening the Molecular Scissors: Advances in Gene-Editing Technology. (2020/01/24) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Development of Newborn Screening for Pompe Disease. (2020/01/24) ♡
• Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants. (2020/01/21) ♡
• 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. Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective. (2020/01/09) ♡
• 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. Treating lysosomal storage disorders: What have we learnt? (2020/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease. (2020/01/01) ♡
• 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. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. (2020/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease. (2020/01/01) ♡
• Pre/post effectiveness evaluation of updated additional risk minimisation measures for an orphan disease: Myozyme (alglucosidase alfa) Safety Information Packet. (2020/01/01) ♡
• 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. Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments. (2020/01/01) ♡
• Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria. (2020/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pompe Disease QMUS and EIM (2020-09-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease (2020-06-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Delineation of the Role of Glucagon-like Peptide-1 Signalling in Relation to Increased Carbohydrate Content in the Distal Small Intestines (2020-03-26) ♡
• Dynamic respiratory muscle function in late-onset Pompe disease. (2019/12/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease. (2019/12/12) ♡
• DeepNEU: Artificially Induced Stem Cell (aiPSC) and Differentiated Skeletal Muscle Cell (aiSkMC) Simulations of Infantile Onset POMPE Disease (IOPD) for Potential Biomarker Identification and Drug Discovery. (2019/12/06) ♡
• Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease. (2019/12/06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of patients with Pompe disease using routine pathology results: PATHFINDER (creatine kinase) study. (2019/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations. (2019/12/01) ♡
• Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential. (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. Antibody-Mediated Enzyme Therapeutics and Applications in Glycogen Storage Diseases. (2019/12/01) ♡
• Impact of positive surgical margin length and Gleason grade at the margin on biochemical recurrence in patients with organ-confined prostate cancer. (2019/12/01) ♡

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