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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 (1018)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants. (2021/05/21) ♡
• 5 minutes to learn - An underrecognized adverse effect of proton pump inhibitors. (2021/05/12) ♡
• Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study. (2021/05/06) ♡
• Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. (2021/05/05) ♡
• Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium. (2021/05/03) ♡
• 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. A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS. (2021/05/01) ♡
• 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. Skeletal muscle magnetic resonance imaging in Pompe disease. (2021/05/01) ♡
• 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. Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. (2021/05/01) ♡
• Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding. (2021/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Effect of the enzyme replacement therapy on hypertrophic cardiomyopathy in an infant with the CRIM-negative infantile Pompe's disease. (2021/05/01) ♡
• Quality of life and its contributors among adults with late-onset Pompe disease in China. (2021/05/01) ♡
• [Technologies and type 1 diabetes: what measures and effects in adolescents?]. (2021/05/01) ♡
• Anaesthetic management of caesarean section in a patient with Pompe disease. (2021/05/01) ♡
• 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. Biomarkers in Glycogen Storage Diseases: An Update. (2021/04/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation. (2021/04/21) ♡
• Racial Difference in the Association of Long-Term Exposure to Fine Particulate Matter (PM(2.5)) and Cardiovascular Disease Mortality among Renal Transplant Recipients. (2021/04/18) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing. (2021/04/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis. (2021/04/01) ♡
• Health and economic outcomes of newborn screening for infantile-onset Pompe disease. (2021/04/01) ♡
• [The importance of patient reported outcome measures in Pompe disease]. (2021/03/30) ♡
• 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. Nutrition in adult patients with selected lysosomal storage diseases. (2021/03/10) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Daytime non-invasive ventilatory support via intermittent abdominal pressure for a patient with Pompe disease. (2021/03/01) ♡
• Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience. (2021/03/01) ♡
• A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. (2021/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Expansion of immature, nucleated red blood cells by transient low-dose methotrexate immune tolerance induction in mice. (2021/03/01) ♡
• Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (2021/03/01) ♡
• Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases. (2021/02/16) ♡
• 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. Cardiovascular disease in non-classic Pompe disease: A systematic review. (2021/02/01) ♡
• Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience. (2021/02/01) ♡
• Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening. (2021/02/01) ♡
• Uptake of moss-derived human recombinant GAA in Gaa (-/-) mice. (2021/02/01) ♡
• Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. (2021/01/27) ♡
• Forensic mental health in Europe: some key figures. (2021/01/01) ♡
• 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. Impaired autophagy: The collateral damage of lysosomal storage disorders. (2021/01/01) ♡
• Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase. (2021/01/01) ♡
• Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease. (2021/01/01) ♡
• 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. GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD. (2021/01/01) ♡
• The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. (2020/12/31) ♡
• Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells. (2020/12/22) ♡
• At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening. (2020/12/21) ♡
• Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases. (2020/12/08) ♡
• Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease. (2020/12/01) ♡
• 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. Diagnostic challenges in metabolic myopathies. (2020/12/01) ♡
• 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. Late-onset myopathies: clinical features and diagnosis. (2020/12/01) ♡
• Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. (2020/11/30) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo. (2020/11/29) ♡
• Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement. (2020/11/25) ♡
• Assessing the strength of case growth trends in the coronavirus pandemic. (2020/11/25) ♡
• Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children. (2020/11/23) ♡
• 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 Therapeutics Options for Pediatric Neuromuscular Disorders. (2020/11/23) ♡

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