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Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li, Xiaomei; Yang, Yali; Gao, Qing; Gao, Min; Lv, Yvqiang; Dong, Rui; Liu, Yi; Zhang, Kaihui; Gai, Zhongtao.
Afiliação
  • Li X; Department of Neonatology, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China.
  • Yang Y; Department of Rehabilitation, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China.
  • Gao Q; Department of Genetics, Jinan Maternity and Child Care Hospital, Jinan, Shandong, 250001, China.
  • Gao M; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China.
  • Lv Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China.
  • Dong R; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China.
  • Liu Y; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China.
  • Zhang K; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China. khz83@163.com.
  • Gai Z; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong, 250022, China. gaizhongtao@sina.com.
Metab Brain Dis ; 33(3): 741-751, 2018 06.
Article em En | MEDLINE | ID: mdl-29307017
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida) / Doença da Urina de Xarope de Bordo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Qualitative_research Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida) / Doença da Urina de Xarope de Bordo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Qualitative_research Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article