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Pompe disease
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Publications and studies (1195)
- 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. Diagnosis, management and monitoring of patients with Pompe disease in the UK. (2025/12/23) ♡
- Diaphragmatic pacing system from the point of view of the patients: 14 years of clinical experience and follow-up. (2025/12/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging. (2025/12/19) ♡
- Complete neutralizing antibody evasion by serodivergent non-mammalian AAVs enables gene therapy redosing. (2025/12/16) ♡
- Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements. (2025/12/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. (2025/12/09) ♡
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease. (2025/12/04) ♡
- A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States. (2025/12/01) ♡
- Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience. (2025/12/01) ♡
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience. (2025/12/01) ♡
- Clinical utility of untargeted urine oligosaccharide screening. (2025/12/01) ♡
- 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. Enzyme Replacement Therapy & Other Therapeutic Frontiers in Infantile Metabolic Disorders. (2025/12/01) ♡
- 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. [Protocol for monitoring and managing diabetics treated with insulin via an external insulin pump according to an ePEP plan]. (2025/12/01) ♡
- Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm. (2025/11/28) ♡
- Identification of miRNAs Associated with Infantile-Onset Pompe Disease. (2025/11/25) ♡
- Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease. (2025/11/24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation. (2025/11/21) ♡
- Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease. (2025/11/01) ♡
- Long-Term Functional Correction of Pompe Disease and Increased α-Glucosidase Expression after Gene Therapy with Novel Combinations of Muscle-Targeted Transcriptional Cis-Regulatory Elements. (2025/11/01) ♡
- 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. Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review. (2025/11/01) ♡
- 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. Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives. (2025/11/01) ♡
- An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease. (2025/11/01) ♡
- Therapeutic acute intermittent hypoxia modestly improves breathing in Pompe disease. (2025/11/01) ♡
- Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder. (2025/11/01) ♡
- Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease. (2025/11/01) ♡
- Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases. (2025/11/01) ♡
- Hypertrophic cardiomyopathy in Pompe disease following avalglucosidase alfa therapy. (2025/11/01) ♡
- 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. Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment. (2025/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cipaglucosidase alfa plus miglustat in Pompe disease: two non-ambulatory patients switching from high‑dose, high-frequency alglucosidase alfa. (2025/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database. (2025/10/31) ♡
- 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) ♡
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