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[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
Kang, L L; Liu, Y P; Shen, M; Chen, Z H; Song, J Q; He, R X; Liu, Y; Zhang, Y; Dong, H; Li, M Q; Jin, Y; Zheng, H; Wang, Q; Ding, Y; Li, X Y; Li, D X; Li, H X; Liu, X Q; Xiao, H J; Jiang, Y W; Xiong, H; Zhang, C Y; Wang, Z X; Yuan, Y; Liang, D S; Tian, Y P; Yang, Y L.
Afiliação
  • Kang LL; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Liu YP; Department of Pediatrics, Peking University People's Hospital, Beijing 100044, China.
  • Shen M; Translational Medicine Laboratory, Chinese People's Liberation Army General Hospital, Beijing 100045, China.
  • Chen ZH; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Song JQ; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • He RX; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Liu Y; Clinical Laboratory, China-Japan Friendship Hospital, Beijing 100029, 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.
  • Li MQ; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Jin Y; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Zheng H; Department of Pediatrics, First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou 450000, China.
  • Wang Q; Department of Endocrinology and Genetic Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
  • Ding Y; Department of Endocrinology and Genetic Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
  • Li XY; Precision Medicine Center, General Hospital of Tianjin Medical University, Tianjin 300020, China.
  • Li DX; Department of Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450003, China.
  • Li HX; Clinical Laboratory, Peking University First Hospital, Beijing 100034, China.
  • Liu XQ; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Xiao HJ; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Jiang YW; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Zhang CY; Translational Medicine Laboratory, Chinese People's Liberation Army General Hospital, Beijing 100045, China.
  • Wang ZX; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Yuan Y; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Liang DS; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha 430074, China.
  • Tian YP; Translational Medicine Laboratory, Chinese People's Liberation Army General Hospital, Beijing 100045, China.
  • Yang YL; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Er Ke Za Zhi ; 58(6): 468-475, 2020 Jun 02.
Article em Zh | MEDLINE | ID: mdl-32521958
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article