Art

J-GLOBAL ID：201802223709648746   Reference number：18A1003890

A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy

乳児における高インスリン血性低血糖症に関連した電荷症候群の症例【JST・京大機械翻訳】

Author (6)： Sekiguchi Kazuhito (Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan) ,  Itonaga Tomoyo (Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan) ,  Maeda Tomoki (Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan) ,  Fukami Maki (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Yorifuji Tohru (Division of Pediatric Endocrinology and Metabolism, Children’s Medical Center, Osaka City General Hospital, Osaka, Japan) ,  Ihara Kenji (Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 61  Issue： 6  Page： 312-314  Publication year： 2018 
JST Material Number： A1224A  ISSN： 1769-7212  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： CHARGE syndrome is a rare auto...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A1003890&from=J-GLOBAL&jstjournalNo=A1224A") }}

Thesaurus term： DNA binding protein ,  Mutation ,  patient ,  blood concentration ,  autosome ,  dominance ,  *Infant ,  Hyperinsulinemia ,  *electric charge ,  *Hypoglycemia ,  Heredity ,  growth hormone ,  gene analysis ,  causative gene ,  *child ,  aromatic chlorine compound ,  sultam ,  polynuclear aromatic compound

Author keywords (4)： CHARGE syndrome ,  Hyperinsulinemic hypoglycemia ,  CHD7 ,  Diazoxide

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Endocrine diseases  (GL03000I)

Substance index (1)： Diazoxide

Terms in the title (5)： 乳児 ,  高インスリン血性低血糖症 ,  電荷 ,  症候群 ,  症例