Art

J-GLOBAL ID：201802284179605990   Reference number：18A1264225

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

一過性メチルマロン酸血症を呈したCDKL5関連脳症の男性例【JST・京大機械翻訳】

Author (18)： Akamine Satoshi (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Ishizaki Yoshito (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Sakai Yasunari (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Torisu Hiroyuki (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Torisu Hiroyuki (Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan) ,  Fukai Ryoko (Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan) ,  Miyake Noriko (Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan) ,  Ohkubo Kazuhiro (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Koga Hiroshi (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Sanefuji Masafumi (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Sakata Ayumi (Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Kimura Masahiko (Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan) ,  Yamaguchi Seiji (Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan) ,  Sakamoto Osamu (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Hara Toshiro (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Saitsu Hirotomo (Department of Biochemistry, Hamamatsu University School of Medicine, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan) ,  Ohga Shouichi (Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 61  Issue： 8  Page： 451-454  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： Mutations in the X-linked gene...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A1264225&from=J-GLOBAL&jstjournalNo=A1224A") }}

Thesaurus term： seizure (disease) ,  woman ,  gene ,  Metabolism ,  organic acid ,  *man ,  *brain disease ,  Mutation ,  patient ,  urinary excretion ,  Recurrence ,  Genetic Variation ,  aliphatic amine ,  sulfide (organic) ,  aliphatic carboxylic acid ,  sulfur containing amino acid ,  primary amine
Semi thesaurus term： variation(biology) ,  幼児期 , 【Automatic Indexing@JST】

Author keywords (5)： Methylmalonic acidemia ,  Whole-exome sequencing ,  De novo mutation ,  CDKL5 ,  Early-onset epileptic encephalopathy

JST classification (3)： Genetic variation  (EC01030Y) ,  Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (2)： Methylmalonic Acid ,  Methionine

Terms in the title (3)： メチルマロン酸血症 ,  脳症 ,  男性