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J-GLOBAL ID：202002281941770008   整理番号：20A1963099

進行性脳症乳児の新規複合ヘテロ接合ACO2突然変異:新たに同定された神経代謝症候群

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome

著者 (15件)： Park Ji Soo (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Kim Man Jin (Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea) ,  Kim Man Jin (Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea) ,  Kim Soo Yeon (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Kim Soo Yeon (Pediatric Clinical Neuroscience Center, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Lim Byung Chan (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Lim Byung Chan (Pediatric Clinical Neuroscience Center, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Kim Ki Joong (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Kim Ki Joong (Pediatric Clinical Neuroscience Center, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Seong Moon-Woo (Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea) ,  Seong Moon-Woo (Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea) ,  Lee Jin Sook (Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea) ,  Chae Jong-Hee (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea) ,  Chae Jong-Hee (Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea) ,  Chae Jong-Hee (Pediatric Clinical Neuroscience Center, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Republic of Korea)
資料名： Brain & Development  (Brain & Development)
巻： 42  号： 9  ページ： 680-685  発行年： 2020年10月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： ACO2遺伝子は,トリカルボン酸サイクルの第2段階に関与する...

シソーラス用語： ヒト ,...
準シソーラス用語： *ACO2遺伝子 ,...

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著者キーワード (6件)： ACO_2 ,  アコニターゼ ,  視神経萎縮 ,  小脳萎縮 ,  神経代謝障害 ,  ミトコンドリア機能障害

分類 (2件)： 神経系の診断  (GN02000H) ,  先天性疾患・奇形の診断  (GD03020G)

タイトルに関連する用語 (8件)： 脳症 ,  乳児 ,  ヘテロ接合 ,  突然変異 ,  同定 ,  神経 ,  代謝 ,  症候群