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Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Kim, WooJoong; Cho, Jae So; Shim, Young Kyu; Ko, Young Jun; Choi, Sun Ah; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Kim, Man Jin; Seong, Moon-Woo; Chae, Jong-Hee.
Afiliação
  • Kim W; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Cho JS; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Shim YK; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Ko YJ; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Choi SA; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Kim SY; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
  • Kim H; Department of Pediatrics, Seoul National University Bundang Hospital, Seoul, Republic of Korea.
  • Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Hwang H; Department of Pediatrics, Seoul National University Bundang Hospital, Seoul, Republic of Korea.
  • Choi J; Department of Pediatrics, SMG-SNU Boramae Hospital, Seoul, Republic of Korea.
  • Kim KJ; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Kim MJ; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea; Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address: chaeped1@sn
Brain Dev ; 43(7): 759-767, 2021 Aug.
Article em En | MEDLINE | ID: mdl-33875303
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / GTP Cicloidrolase Tipo de estudo: Diagnostic_studies / Systematic_reviews Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / GTP Cicloidrolase Tipo de estudo: Diagnostic_studies / Systematic_reviews Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article