ArticleBMC musculoskeletal disorders2024
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Article in BMC musculoskeletal disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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1 citing paper in PubMed.
- Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case.Open medicine (Warsaw, Poland) · 2025Article
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7 authors.
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Abstract
backgroundPompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
aimsThis study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
methodsIn this case series study, nine patients with Pompe disease without complaints of neuropathy were evaluated. Small fiber neuropathy was assessed using the Small Fiber Neuropathy Screening List (SFNSL) and SUDOSCAN
resultsSmall fiber neuropathy was detected in seven patients (77.8%) according to the SFNSL. Three patients (3/9, approximately 30%) exhibited positive electrophysiological tests, including SSR, SUDOSCAN
conclusionsThis study indicates that neuropathy can be a comorbid condition in Pompe disease, emphasizing the importance of screening for this disabling condition.
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