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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)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory Muscle Training in L-Onset Pompe Disease (LOPD) (2019-07-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease (2019-07-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Albuterol in Individuals With Late Onset Pompe Disease (LOPD) (2019-07-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pompe Gene Therapy- Screening for Eligibility (2019-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy (2019-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (2019-02-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening of Lysosomal Storage Disorders Diseases in Minority Groups (2019-01-22) ♡
• Early higher dosage of alglucosidase alpha in classic Pompe disease. (2018/12/19) ♡
• Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. (2018/12/18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease. (2018/12/07) ♡
• Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. (2018/12/01) ♡
• 36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. (2018/12/01) ♡
• An update on diagnosis and therapy of metabolic myopathies. (2018/12/01) ♡
• Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. (2018/12/01) ♡
• 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. Lysosomal storage disease overview. (2018/12/01) ♡
• 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. The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence. (2018/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Skeletal myopathy in Pompe disease: a failure of satellite cell activation? (2018/11/30) ♡
• 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 Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A Narrative Review. (2018/11/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme Replacement Therapy Provides Effective, Long-Term Treatment of Cardiomyopathy in Pompe Disease. (2018/11/24) ♡
• AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice. (2018/11/17) ♡
• 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 Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review. (2018/11/13) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease. (2018/11/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response. (2018/11/01) ♡
• Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy. (2018/11/01) ♡
• Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. (2018/11/01) ♡
• Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care. (2018/11/01) ♡
• Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy. (2018/11/01) ♡
• N-glycan Remodeling Using Mannosidase Inhibitors to Increase High-mannose Glycans on Acid α-Glucosidase in Transgenic Rice Cell Cultures. (2018/10/31) ♡
• Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II). (2018/10/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report. (2018/10/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide. (2018/10/28) ♡
• Follow-up analysis of voice quality in patients with late-onset Pompe disease. (2018/10/26) ♡
• Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD). (2018/10/22) ♡
• Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. (2018/10/15) ♡
• The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. (2018/10/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. (2018/10/01) ♡
• Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms. (2018/10/01) ♡
• 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. Pompe Disease: From Basic Science to Therapy. (2018/10/01) ♡
• 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. [Innovative therapeutic approaches for hereditary neuromuscular diseases]. (2018/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment? (2018/10/01) ♡
• 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. Lysosomal storage diseases. (2018/10/01) ♡
• 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 with Nemaline Bodies. (2018/09/27) ♡
• 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. Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease. (2018/09/05) ♡
• Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy. (2018/09/05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Mucolipidosis type III, a series of adult patients. (2018/09/01) ♡
• 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. Glycophagy: An emerging target in pathology. (2018/09/01) ♡
• Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis. (2018/09/01) ♡
• 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. Preventing or Eradicating Factor VIII Antibody Formation in Patients with Hemophilia A: What Can We Learn from Other Disorders? (2018/09/01) ♡

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