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Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Gokay, Songul; Kendirci, Mustafa; Ustkoyuncu, Pembe Soylu; Kardas, Fatih; Bayram, Ayse Kacar; Per, Hüseyin; Poyrazoglu, Hatice Gamze.
Afiliação
  • Gokay S; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. songulsa@yahoo.com.
  • Kendirci M; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Ustkoyuncu PS; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Kardas F; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Bayram AK; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Per H; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Poyrazoglu HG; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Firat University, Elazig, Turkey.
Pediatr Int ; 58(10): 1069-1072, 2016 Oct.
Article em En | MEDLINE | ID: mdl-27285949

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina Transaminase / DNA / Tirosinemias / Mutação Tipo de estudo: Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Int Assunto da revista: PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina Transaminase / DNA / Tirosinemias / Mutação Tipo de estudo: Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Int Assunto da revista: PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia
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