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Reduced thiamine binding is a novel mechanism for TPK deficiency disorder.
Huang, Wenjie; Qin, Jiao; Liu, Dingdong; Wang, Yan; Shen, Xiaofei; Yang, Na; Zhou, Hui; Cai, Xiao-Tang; Wang, Zhi-Ling; Yu, Dan; Luo, Rong; Sun, Qingxiang; Xie, Yong-Mei; Jia, Da.
Afiliação
  • Huang W; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Qin J; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Liu D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Wang Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Shen X; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Yang N; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Zhou H; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Cai XT; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Wang ZL; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Yu D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Luo R; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China.
  • Sun Q; Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610041, China.
  • Xie YM; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China. may.xym@163.com.
  • Jia D; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, 610041, China. Jiada@scu.edu.cn.
Mol Genet Genomics ; 294(2): 409-416, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30483896
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tiamina / Encefalopatias / Tiamina Pirofosfoquinase Limite: Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tiamina / Encefalopatias / Tiamina Pirofosfoquinase Limite: Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Alemanha