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Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.
Wu, Shuiyan; Li, Weixi; Bai, Zhenjiang; Huang, Saihu; Yang, Daoping; Chen, Hongmei; Li, Ying; Liu, Ying; Lv, Haitao.
Afiliação
  • Wu S; Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Li W; Institute of Pediatric Research, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Bai Z; Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Huang S; Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Yang D; Department of Cardiology, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Chen H; Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Li Y; Pediatric Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China.
  • Liu Y; Institute of Pediatric Research, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China. d201077400@alumni.hust.edu.cn.
  • Lv H; Department of Cardiology, Children's Hospital of Soochow University, Suzhou, Jiangsu Province, 215025, P.R. China. haitaolvsoochow1@163.com.
BMC Pediatr ; 22(1): 74, 2022 02 02.
Article em En | MEDLINE | ID: mdl-35109800
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Cerebral / Doenças Mitocondriais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Cerebral / Doenças Mitocondriais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article