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Volumn 22, Issue 2, 2012, Pages 162-165

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

Author keywords

Glycogen; Glycogen storage disease; Glycogen synthase; Sudden death; Syncope

Indexed keywords

GLYCOGEN SYNTHASE; STARCH;

EID: 84856322372     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.08.008     Document Type: Article
Times cited : (33)

References (8)
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  • 5
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    • Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
    • Orho M., Bosshard N.U., Buist N.R., Gitzelmann R., Aynsley-Green A., Blümel P., et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 1998, 102:507-515.
    • (1998) J Clin Invest , vol.102 , pp. 507-515
    • Orho, M.1    Bosshard, N.U.2    Buist, N.R.3    Gitzelmann, R.4    Aynsley-Green, A.5    Blümel, P.6
  • 7
    • 70350618598 scopus 로고    scopus 로고
    • Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts
    • Cameron J.M., Levandovskiy V., MacKay N., Utgiker R., Ackerley C., Chiasson D., et al. Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. Mol Genet Metab 2009, 98:378-382.
    • (2009) Mol Genet Metab , vol.98 , pp. 378-382
    • Cameron, J.M.1    Levandovskiy, V.2    MacKay, N.3    Utgiker, R.4    Ackerley, C.5    Chiasson, D.6
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    • Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise
    • Pederson B.A., Cope C.R., Schroeder J.M., Smith N.W., Irimia J.M., Thurberg B.L., et al. Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise. J Biol Chem 2005, 280:17260-17265.
    • (2005) J Biol Chem , vol.280 , pp. 17260-17265
    • Pederson, B.A.1    Cope, C.R.2    Schroeder, J.M.3    Smith, N.W.4    Irimia, J.M.5    Thurberg, B.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.