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Pompe disease
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Publications and studies (1195)
- Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures. (2023/07/10) ♡
- History of international connections of myology in Europe. (2023/07/10) ♡
- Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening. (2023/07/05) ♡
- 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. Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease. (2023/07/01) ♡
- Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry. (2023/07/01) ♡
- 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. The role of sleep in neuromuscular disorders. (2023/06/29) ♡
- New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. (2023/06/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy. (2023/06/13) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model. (2023/06/11) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease]. (2023/06/10) ♡
- Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia. (2023/06/06) ♡
- Clenbuterol Treatment Is Safe and Associated With Slowed Disease Progression in a Small Open-Label Trial in Patients With Amyotrophic Lateral Sclerosis. (2023/06/01) ♡
- 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. [Molecular therapies: present and future in neuromuscular diseases]. (2023/06/01) ♡
- [Multidisciplinary team for Pompe disease]. (2023/06/01) ♡
- Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective. (2023/05/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature. (2023/05/11) ♡
- Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme. (2023/05/01) ♡
- [Thesaurus of pharmacist interventions associated with inappropriate proton pump inhibitors prescriptions]. (2023/05/01) ♡
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. (2023/05/01) ♡
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. (2023/05/01) ♡
- 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. Metabolic Myopathies in the Era of Next-Generation Sequencing. (2023/04/22) ♡
- 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. [Molecular Therapies of Hereditary Myopathies in Adulthood - a Cursive Overview]. (2023/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Aggressive immunotherapy combined with bortezomib and rituximab for membranous nephropathy associated with enzyme replacement therapy in Pompe disease. (2023/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. What is the role of proton pump inhibitors consumption on the clinical presentation and severity of COVID-19 infection? (2023/03/01) ♡
- Diffusion tensor imaging of the brain in Pompe disease. (2023/03/01) ♡
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders. (2023/03/01) ♡
- 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. Orphan Drugs in Neurology-A Narrative Review. (2023/02/26) ♡
- 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. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report. (2023/02/01) ♡
- Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center. (2023/01/25) ♡
- Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease. (2023/01/15) ♡
- Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review. (2023/01/03) ♡
- Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease. (2023/01/01) ♡
- Improving Insurance Protection for Rare Diseases: Economic Burden and Policy Effects - Simulation of People With Pompe Disease in China. (2023/01/01) ♡
- Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know. (2023/01/01) ♡
- Sonographic evaluations of the skeletal muscles in patients with Pompe disease. (2023/01/01) ♡
- A challenging etiology of myopathy: The late-onset Pompe disease. (2023/01/01) ♡
- Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism. (2023/01/01) ♡
- Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease. (2023/01/01) ♡
- Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers. (2023/01/01) ♡
- Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution. (2023/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD) (2023-12-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease (2023-12-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nutritional Therapy in Late-onset Pompe Disease (2023-11-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha-Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease (2023-11-01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease (2023-10-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Response to Diaphragmatic Pacing in Subjects With Pompe Disease (2023-08-01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease (2023-07-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease (2023-05-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics (2023-04-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease (2023-03-24) ♡
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