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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease glycogen storage disease ii
Comorbidity C0026848|myopathy
Sentences 4
PubMedID- PMC3298100 This last showing a vacuolar myopathy with accumulation of glycogen suggests pompe disease and leads to perform the assay acid alpha-glucosidase activity in various tissues (this can be done on skeletal muscle, fibroblasts, or blood).
PubMedID- 20071996 Conclusions: the neuromuscular manifestations of glycogen storage disease type iii include myopathy and neuropathy and are more likely to occur with increasing age, even in those diagnosed with glycogen storage disease type iiib.
PubMedID- 25752415 We aimed to investigate the prevalence of late-onset pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (ck) levels, in a department of internal medicine.
PubMedID- 23668440 Aim: dysphagia is a known complication in pompe disease (pd), a severe metabolic myopathy due to alpha-glucosidase deficiency.

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