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Pompe disease

Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence

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)

• 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 Variability in 2 Siblings With Late-Onset Pompe Disease. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. (2018/09/01) ♡
• Increase in the Annual Rate of Newly Diagnosed Metastatic Prostate Cancer: A Contemporary Analysis of the Surveillance, Epidemiology and End Results Database. (2018/09/01) ♡
• Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries. (2018/08/28) ♡
• Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. (2018/08/01) ♡
• Precision newborn screening for lysosomal disorders. (2018/08/01) ♡
• Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. (2018/08/01) ♡
• Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation. (2018/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Pompe disease: how to solve many problems with one solution. (2018/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Renal artery fibromuscular dysplasia in Pompe disease: A case report. (2018/07/26) ♡
• Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles. (2018/07/18) ♡
• Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study. (2018/07/18) ♡
• Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases. (2018/07/05) ♡
• Therapeutic Benefit of Autophagy Modulation in Pompe Disease. (2018/07/05) ♡
• Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Elevated Creatine Kinase in a 6-Year-Old Boy. (2018/07/01) ♡
• 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. [Research advances in the diagnosis and treatment of Pompe disease]. (2018/07/01) ♡
• 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 for Lysosomal Disease: Mission Creep and a Taste of Things to Come? (2018/06/27) ♡
• 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. Early AbobotulinumtoxinA (Dysport(®)) in Post-Stroke Adult Upper Limb Spasticity: ONTIME Pilot Study. (2018/06/21) ♡
• 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. Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis. (2018/06/15) ♡
• Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast. (2018/06/07) ♡
• Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies. (2018/06/05) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Pulmonary Hypertension in Glycogen Storage Disease Type II. (2018/06/05) ♡
• A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice. (2018/06/01) ♡
• Diaphragmatic dysfunction as the presenting symptom in neuromuscular disorders: A retrospective longitudinal study of etiology and outcome in 30 German patients. (2018/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Complementary Starch Feeding of the Young Child: Starch Digestion Consortium Workshop 18. (2018/06/01) ♡
• Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. (2018/05/22) ♡
• 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 treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy. (2018/05/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report. (2018/04/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chagasic cardiomyopathy and Pompe disease: case report. (2018/04/05) ♡
• 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's disease in a hemodialysis patient: A first case report. (2018/04/01) ♡
• [Proton pump inhibitors and kidney]. (2018/04/01) ♡
• Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation? (2018/04/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lipidic Nanoparticles Comprising Phosphatidylinositol Mitigate Immunogenicity and Improve Efficacy of Recombinant Human Acid Alpha-Glucosidase in a Murine Model of Pompe Disease. (2018/03/01) ♡
• Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. (2018/03/01) ♡
• 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. AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials. (2018/03/01) ♡
• Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. (2018/03/01) ♡
• A database for screening and registering late onset Pompe disease in Turkey. (2018/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. (2018/03/01) ♡
• The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. (2018/02/07) ♡
• Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. (2018/02/01) ♡
• Four unreported types of glycans containing mannose-6-phosphate are heterogeneously attached at three sites (including newly found Asn 233) to recombinant human acid alpha-glucosidase that is the only approved treatment for Pompe disease. (2018/01/22) ♡
• Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase. (2018/01/10) ♡
• Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? (2018/01/01) ♡
• Screening for late-onset Pompe disease in western Denmark. (2018/01/01) ♡
• Improved cancer-specific free survival and overall free survival in contemporary metastatic prostate cancer patients: a population-based study. (2018/01/01) ♡
• Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse. (2018/01/01) ♡
• Characteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease. (2018/01/01) ♡
• Pompe disease in Austria: clinical, genetic and epidemiological aspects. (2018/01/01) ♡

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