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Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He, Ruxuan; Mo, Ruo; Shen, Ming; Kang, Lulu; Song, Jinqing; Liu, Yi; Chen, Zhehui; Zhang, Hongwu; Yao, Hongxin; Liu, Yupeng; Zhang, Yao; Dong, Hui; Jin, Ying; Li, Mengqiu; Qin, Jiong; Zheng, Hong; Chen, Yongxing; Li, Dongxiao; Wei, Haiyan; Li, Xiyuan; Zhang, Huifeng; Huang, Min; Zhang, Chunyan; Jiang, Yuwu; Liang, Desheng; Tian, Yaping; Yang, Yanling.
Afiliação
  • He R; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Mo R; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Shen M; Research Center for Translational Medicine, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, 100853, China.
  • Kang L; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Song J; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Liu Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Chen Z; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Zhang H; Department of Pediatric Surgery, Peking University First Hospital, Beijing, China.
  • Yao H; Department of Pediatric Surgery, Peking University First Hospital, Beijing, China.
  • Liu Y; Department of Pediatrics, People's Hospital of Peking University, Beijing, China.
  • Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Dong H; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Jin Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Li M; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Qin J; Department of Pediatrics, People's Hospital of Peking University, Beijing, China.
  • Zheng H; Department of Pediatrics, First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, China.
  • Chen Y; Department of Endocrinology and Inherited Metabolic, Henan Children's Hospital, Zhengzhou, China.
  • Li D; Department of Endocrinology and Inherited Metabolic, Henan Children's Hospital, Zhengzhou, China.
  • Wei H; Department of Endocrinology and Inherited Metabolic, Henan Children's Hospital, Zhengzhou, China.
  • Li X; Precision Medicine Center, General Hospital of Tianjin Medical University, Tianjin, China.
  • Zhang H; Department of Pediatrics, Hebei Medical University Second Hospital, Shijiazhuang, China.
  • Huang M; Similan Clinic, Beijing, China.
  • Zhang C; Research Center for Translational Medicine, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, 100853, China.
  • Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
  • Liang D; School of Life Sciences, Central South University, Changsha, 410013, China. liangdesheng@sklmg.edu.cn.
  • Tian Y; Research Center for Translational Medicine, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, 100853, China. tianyp@301hospital.com.cn.
  • Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. organic.acid@vip.126.com.
Orphanet J Rare Dis ; 15(1): 200, 2020 08 03.
Article em En | MEDLINE | ID: mdl-32746869
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Deficiência de Vitamina B 12 / Erros Inatos do Metabolismo dos Aminoácidos / Homocistinúria Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Deficiência de Vitamina B 12 / Erros Inatos do Metabolismo dos Aminoácidos / Homocistinúria Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China