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Pompe disease
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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. 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) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA) (2021-10-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pompe Telemedicine Developmental Study (2021-10-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Higher Dose of Alglucosidase Alpha for Pompe Disease (2021-08-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Lingual Muscle Training in Late-Onset Pompe Disease (LOPD) (2021-07-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Alglucosidase Alfa Pompe Safety Sub-Registry (2021-07-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease (2021-07-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of Tongue Involvement in Late-Onset Pompe Disease (2021-07-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diet and Exercise in Pompe Disease (2021-05-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Getting Global Rare Disease Insights Through Technology Study (2021-04-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Molecular and Cellular Mechanisms of Lysosomal Storage Diseases (2021-02-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease. (2021-02-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study) (2021-02-10) ♡
- 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) ♡
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