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Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.
Katsu-Jiménez, Yurika; Vázquez-Calvo, Carmela; Maffezzini, Camilla; Halldin, Maria; Peng, Xiaoxiao; Freyer, Christoph; Wredenberg, Anna; Giménez-Cassina, Alfredo; Wedell, Anna; Arnér, Elias S J.
Afiliação
  • Katsu-Jiménez Y; Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Vázquez-Calvo C; Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Maffezzini C; Division of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Halldin M; Department of Women's and Children's Health, Akademiska University Hospital, Uppsala, Sweden.
  • Peng X; Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Freyer C; Division of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Wredenberg A; Division of Molecular Metabolism, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Giménez-Cassina A; Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Wedell A; Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa," Universidad Autónoma de Madrid, Madrid, Spain.
  • Arnér ESJ; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
Diabetes ; 68(4): 709-723, 2019 04.
Article em En | MEDLINE | ID: mdl-30755400
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Proteínas de Transporte / Ácido Pirúvico / Metionina / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Proteínas de Transporte / Ácido Pirúvico / Metionina / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article