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Pompe disease
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Publications (1018)
- Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts. (2020/11/20) ♡
- Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice. (2020/11/19) ♡
- Newborn Screening for Pompe Disease: Pennsylvania Experience. (2020/11/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. M Mode Ultrasound and Tissue Doppler Imaging to Assess Diaphragm Feature in Late Onset Pompe Disease. (2020/11/13) ♡
- Correction to: Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. (2020/11/09) ♡
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. (2020/11/05) ♡
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. (2020/11/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases. (2020/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders. (2020/11/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects. (2020/11/01) ♡
- 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. Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial. (2020/11/01) ♡
- Treatable lysosomal storage diseases in the advent of disease-specific therapy. (2020/11/01) ♡
- Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. (2020/11/01) ♡
- Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease. (2020/10/14) ♡
- Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity. (2020/10/09) ♡
- 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. Advances in diagnosis and management of Pompe disease. (2020/10/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hepatocellular type II fibrinogen inclusions in a patient with severe COVID-19 and hepatitis. (2020/10/01) ♡
- Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The potential impact of timing of IVIG administration on the efficacy of rituximab for immune tolerance induction for patients with Pompe disease. (2020/10/01) ♡
- How to capture activities of daily living in myotonic dystrophy type 2? (2020/10/01) ♡
- 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. Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review. (2020/10/01) ♡
- 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 treated with enzyme replacement therapy in pregnancy. (2020/09/30) ♡
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study. (2020/09/18) ♡
- 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: New Developments in an Old Lysosomal Storage Disorder. (2020/09/18) ♡
- Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients. (2020/09/14) ♡
- Pregnancy Outcomes in Late Onset Pompe Disease. (2020/09/11) ♡
- Nystagmus in Infantile Pompe Disease: a new feature? (2020/09/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease. (2020/09/04) ♡
- Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study. (2020/09/03) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase. (2020/09/02) ♡
- Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI. (2020/09/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unwarranted, long term, alglucosidase alfa enzyme replacement therapy in two non-Pompe disease patients. (2020/09/01) ♡
- Molecular process of glucose uptake and glycogen storage due to hamamelitannin via insulin signalling cascade in glucose metabolism. (2020/09/01) ♡
- Results of an open label feasibility study of sodium valproate in people with McArdle disease. (2020/09/01) ♡
- White matter brain lesions in infantile-onset Pompe disease are not metabolically active using (18)F-FDG PET/MR imaging. (2020/09/01) ♡
- The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease. (2020/08/14) ♡
- Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort. (2020/08/06) ♡
- Behavioral, social and school functioning in children with Pompe disease. (2020/08/05) ♡
- 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: pathogenesis, molecular genetics and diagnosis. (2020/08/03) ♡
- Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders. (2020/08/01) ♡
- 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. Other Myopathies. (2020/08/01) ♡
- Cost-effectiveness analysis of enzyme replacement therapy (ERT) for treatment of infantile-onset Pompe disease (IOPD) in the Iranian pharmaceutical market. (2020/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Persistent respiratory distress or something else?]. (2020/07/16) ♡
- 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 with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report. (2020/07/15) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease. (2020/07/06) ♡
- 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. Establishing Pompe Disease Newborn Screening: The Role of Industry. (2020/07/05) ♡
- 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. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. (2020/07/01) ♡
- 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. 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) ♡
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