Distinct features in adult polyglucosan body disease: a case series
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference12 articles.
1. Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV;Radhakrishnan;Clin Dysmorphol,2019
2. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings;Mochel;Ann Neurol,2012
3. GBE1-related disorders: adult polyglucosan body disease and its neuromuscular phenotypes;Souza;J Inherit Metab Dis,2021
4. Adult polyglucosan body disease presenting as a unilateral progressive plexopathy;Naddaf;Muscle Nerve,2016
5. Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient;Ndugga-Kabuye;BMJ Case Rep,2019
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease;Journal of Neuro-Ophthalmology;2024-08-15
2. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV;Molecular Genetics and Metabolism Reports;2024-06
3. Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls;Frontiers in Genetics;2023-12-18
4. Novel brain MRI clues to diagnose adult polyglucosan body disease - a commentary;Neuromuscular Disorders;2023-08
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