Glycogen Storage Disease
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작성자 MV 작성일25-11-13 23:46 (수정:25-11-13 23:46)관련링크
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Hedberg-Oldfors, Carola; Oldfors, Anders (2015). "Polyglucosan storage myopathies". Molecular Aspects of Medicine. Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. A new Glycogen Storage Disease Brought on by a Dominant PYGM Mutation. Ann Neurol. 2020 Aug;88(2):274-282. Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; Laforêt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019). "O.5A new glycogen storage disorder brought on by a dominant mutation within the glycogen myophosphorylase gene (PYGM)". Neuromuscular Disorders. 29: S39. Rose MR, Howard RS, Genet SA, McMahon CJ, Healthy Flow Blood product Whitfield A, Morgan-Hughes JA. A case of myopathy related to a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. 1993 Jan;16(1):57-62. Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Gisela; Quinlivan, Ros; Reason, Stacey; International Association for Muscle Glycogen Storage Disease research group (December 2021). "Clinical follow tips for glycogen storage illness V & VII (McArdle illness and Tarui disease) from an international research group".
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