GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2006
Pompe disease diagnosis and management guideline.
Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 4 registered trials, which are not on this map. Cited by 271 papers, 5 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.
A Pilot Study of Diet and Exercise Therapy in Pompe Disease
Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease GAA Variant Identified by Newborn Screening
Multispectral Optoacoustic Tomography for Translational Molecular Imaging in Pompe Disease
Who cites it
271 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.Frontiers in immunology · 2025Pooled it
- 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
- Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data.Journal of comparative effectiveness research · 2024Pooled it
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- Enzyme replacement therapy for infantile-onset Pompe disease.The Cochrane database of systematic reviews · 2017Pooled it
- Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease.Nature communications · 2024Trial
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).Journal of neurology · 2024Trial
- Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).Journal of neurology · 2024Trial
- Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial.Neuromuscular disorders : NMD · 2020Trial
- Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.Human gene therapy. Clinical development · 2017Trial
- Quantitative analysis of upright standing in adults with late-onset Pompe disease.Scientific reports · 2016Trial
- Evaluation of Pompe Disease from a Broad and Systemic Perspective.Journal of clinical practice and research · 2026Article
- A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa.Journal of comparative effectiveness research · 2026Article
- AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease.EClinicalMedicine · 2026Article
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- Accumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease.Acta neuropathologica communications · 2026Article
- Combined omalizumab and desensitization to control IgE-mediated hypersensitivity in enzyme replacement therapy for late-onset Pompe disease.Orphanet journal of rare diseases · 2026Article
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- Optoacoustic muscle imaging.Journal of neuromuscular diseases · 2026Review
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
211 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]
Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
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.