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Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Vissing, John; Akman, H Orhan; Aasly, Jan; Kahler, Stephen G; Bacino, Carlos A; DiMauro, Salvatore; Haller, Ronald G.
Afiliação
  • Vissing J; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • Akman HO; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • Aasly J; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • Kahler SG; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • Bacino CA; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • DiMauro S; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
  • Haller RG; From the Department of Neurology (J.V.), University of Copenhagen, Denmark; Department of Neurology (O.A., S.D.), Columbia University, New York, NY; Department of Neurology (J.A.), St. Olavs Hospital; NTNU (J.A.), Trondheim, Norway; Department of Pediatrics (S.G.K.), University of Arkansas School fo
Neurology ; 91(11): e1077-e1082, 2018 09 11.
Article em En | MEDLINE | ID: mdl-30111548
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fosfoglicerato Quinase / Tolerância ao Exercício / Doenças Genéticas Ligadas ao Cromossomo X / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fosfoglicerato Quinase / Tolerância ao Exercício / Doenças Genéticas Ligadas ao Cromossomo X / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2018 Tipo de documento: Article