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URAT1 mutations cause renal hypouricaemia combined with Fanconi syndrome in a Chinese patient.
Du, Juan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiao-Ping; Xia, Weibo.
Afiliação
  • Du J; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li M; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xing XP; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Nephrology (Carlton) ; 23(8): 797-798, 2018 Aug.
Article em En | MEDLINE | ID: mdl-30920107
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Ácido Úrico / Cálculos Urinários / Transportadores de Ânions Orgânicos / Proteínas de Transporte de Cátions Orgânicos / Síndrome de Fanconi / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Nephrology (Carlton) Assunto da revista: NEFROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Ácido Úrico / Cálculos Urinários / Transportadores de Ânions Orgânicos / Proteínas de Transporte de Cátions Orgânicos / Síndrome de Fanconi / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Nephrology (Carlton) Assunto da revista: NEFROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China