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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0017921|pompe disease
Sentences 3
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- 22538313 Several muscle diseases, including pompe disease, sporadic inclusion body myositis, and the congenital myopathies, receive attention in articles that provide very useful information for the clinician, and there is a treatment-oriented article on dystrophinopathies, which makes for excellent reading.
PubMedID- 25047669 We screened for late-onset pompe disease in a cohort of undetermined myopathy patients with proximal muscle weakness and/or elevated serum creatine kinase values.

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