ReviewJournal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi2018
The impact of Pompe disease on smooth muscle: a review.
Review in Journal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis 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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis.Orphanet journal of rare diseases · 2026Article
- 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
- GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.Respiratory physiology & neurobiology · 2025Article
- Review
- Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.Orphanet journal of rare diseases · 2024Article
- [Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.Orphanet journal of rare diseases · 2023Article
- Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.Metabolomics : Official journal of the Metabolomic Society · 2023Article
- Pompe disease in China: clinical and molecular characteristics.Frontiers in cardiovascular medicine · 2023Article
- Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.World journal of clinical cases · 2022Article
- A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.Journal of neuromuscular diseases · 2022Review
- New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.Journal of clinical medicine · 2021Article
- Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.Neuroscience and biobehavioral reviews · 2021Review
- Sex Hormones and Lung Inflammation.Advances in experimental medicine and biology · 2021Article
- Glycogen accumulation in smooth muscle of a Pompe disease mouse model.Journal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi · 2021Article
- Production of Human Acid-Alpha Glucosidase With a Paucimannose Structure by GlycoengineeredFrontiers in plant science · 2021Article
- Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.Journal of thoracic disease · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen accumulation in cardiac muscle, skeletal muscle, and motor neurons, which ultimately results in cardiorespiratory failure. However, the severity of pathology and its impact on clinical outcomes are poorly described in smooth muscle. The advent of enzyme replacement therapy (ERT) in 2006 has improved clinical outcomes in infantile-onset Pompe disease patients. Although ERT increases patient life expectancy and ventilator free survival, it is not entirely curative. Persistent motor neuron pathology and weakness of respiratory muscles, including airway smooth muscles, contribute to the need for mechanical ventilation by some patients on ERT. Some patients on ERT continue to experience life-threatening pathology to vascular smooth muscle, such as aneurysms or dissections within the aorta and cerebral arteries. Better characterization of the disease impact on smooth muscle will inform treatment development and help anticipate later complications. This review summarizes the published knowledge of smooth muscle pathology associated with Pompe disease in animal models and in patients.
Indexed as
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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.