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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)

• A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP). (2025/10/30) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial Note: The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease. (2025/10/22) ♡
• Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype. (2025/10/21) ♡
• When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease. (2025/10/06) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II. (2025/10/01) ♡
• Design and synthesis of polyhydroxylated azabicyclo[3.3.1]nonane as selective lysosomal α-glucosidase stabilizers enhancing cellular uptake. (2025/10/01) ♡
• 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. The Evolving Landscape of Hypertrophic Cardiomyopathy: Phenocopies and Diagnostic Pathways in Hypertrophic Cardiomyopathy. (2025/10/01) ♡
• Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. (2025/10/01) ♡
• Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease. (2025/09/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery. (2025/09/27) ♡
• C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease. (2025/09/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy. (2025/09/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions. (2025/09/11) ♡
• Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. (2025/09/03) ♡
• 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. [Neuromuscular diseases in pediatrics with specific treatments]. (2025/09/01) ♡
• Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study. (2025/08/28) ♡
• Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). (2025/08/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. (2025/08/22) ♡
• 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. Pompe Disease. (2025/08/21) ♡
• 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. Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis. (2025/08/21) ♡
• Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (Coturnix japonica). (2025/08/19) ♡
• 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. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. (2025/08/16) ♡
• 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. Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives. (2025/08/16) ♡
• Effect of High Altitude on Small Pulmonary Vein and Artery Volume in the COPDGene Cohort: Towards Better Understanding of Lung Physiology and Pulmonary Disease. (2025/08/15) ♡
• Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease. (2025/08/14) ♡
• Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial. (2025/08/12) ♡
• 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. Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review. (2025/08/11) ♡
• Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the GAA:c.1799G>A and c.55G>A Variants. (2025/08/07) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice. (2025/08/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy. (2025/08/06) ♡
• Prevalence of lysosomal storage disease (LSD) in Malaysia. (2025/08/01) ♡
• Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry. (2025/07/31) ♡
• Determination of the Epitopes of Alpha-Glucosidase Anti-Drug Antibodies in Pompe Disease Patient Plasma Samples. (2025/07/28) ♡
• Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy. (2025/07/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Results of orthodontic procedure in a patient with classic infantile Pompe disease. (2025/07/15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa. (2025/07/11) ♡
• Pompe Disease: Current State and Future Treatments. (2025/07/02) ♡
• Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia. (2025/07/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease. (2025/06/26) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Gene Therapy for Infantile-Onset Pompe's Disease. (2025/06/26) ♡
• Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism. (2025/06/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction. (2025/06/23) ♡
• 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. Advances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders. (2025/06/01) ♡
• An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines. (2025/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adult Pompe disease: Analysis of 13 patients. (2025/05/23) ♡
• Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy. (2025/05/09) ♡
• The use of protein supplements in children with cerebral palsy: A scoping literature review. (2025/05/08) ♡
• A myotropic AAV vector combined with skeletal muscle cis-regulatory elements improve glycogen clearance in mouse models of Pompe disease. (2025/04/09) ♡
• Simultaneous monitoring of glycogen, creatine, and phosphocreatine in type II glycogen storage disease using saturation transfer MRI. (2025/04/01) ♡
• 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 and rapid genomic diagnosis of neuromuscular diseases. (2025/03/01) ♡

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