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Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Sato, Hiroki; Uematsu, Mitsugu; Endo, Wakaba; Nakayama, Tojo; Kobayashi, Tomoko; Hino-Fukuyo, Naomi; Sakamoto, Osamu; Shintaku, Haruo; Kure, Shigeo.
Afiliação
  • Sato H; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Uematsu M; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address: uematsu@bk9.so-net.ne.jp.
  • Endo W; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Nakayama T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Kobayashi T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Hino-Fukuyo N; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Sakamoto O; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Shintaku H; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Kure S; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Brain Dev ; 36(3): 268-71, 2014 Mar.
Article em En | MEDLINE | ID: mdl-23660475
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Biopterinas / GTP Cicloidrolase Tipo de estudo: Diagnostic_studies País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Biopterinas / GTP Cicloidrolase Tipo de estudo: Diagnostic_studies País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão