ReviewNeurologic clinics2014
Pompe disease: literature review and case series.
Review in Neurologic clinics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.Turkish journal of medical sciences · 2025Pooled it
- The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.BMC neurology · 2017Pooled it
- Identification of serum microRNAs as potential biomarkers in Pompe disease.Annals of clinical and translational neurology · 2019Trial
- GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.Molecular therapy. Advances · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease.Molecular genetics and metabolism reports · 2025Article
- Identification of miRNAs Associated with Infantile-Onset Pompe Disease.Molecular syndromology · 2025Article
- An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease.Advances in therapy · 2025Article
- Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease.CPT: pharmacometrics & systems pharmacology · 2025Article
- Article
- Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of theGenes · 2025Article
- Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.Molecular genetics and metabolism reports · 2025Article
- Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.Italian journal of pediatrics · 2025Article
- Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease.Journal of pharmacokinetics and pharmacodynamics · 2023Article
- Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.International journal of molecular sciences · 2023Article
- Curated incidence of lysosomal storage diseases from the Taiwan Biobank.NPJ genomic medicine · 2023Article
- Novel Mutation in the FelineAnimals : an open access journal from MDPI · 2023Article
- The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.Frontiers in pediatrics · 2023Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.