Art

J-GLOBAL ID：201902237344088268   Reference number：19A1928433

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation

CLN6変異を有する5歳の少年における歩行障害の急速進行

Author (10)： Matsumoto Ayumi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Nagashima Masako (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Iwama Kazuhiro (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan) ,  Mizuguchi Takeshi (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan) ,  Makino Shinji (Department of Opthalmology, Jichi Medical University, Tochigi, Japan) ,  Ikeda Takahiro (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Muramatsu Kazuhiro (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan) ,  Yamagata Takanori (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Osaka Hitoshi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 41  Issue： 8  Page： 726-730  Publication year： Sep. 2019 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Neuronal Ceroid-Lipofuscinosis ,...

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Author keywords (3)： Neuronal ceroid lipofuscinoses (NCL) ,  CNL6 ,  Regression

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Substance index (1)： Carbamazepine

Terms in the title (2)： 変異 ,  歩行障害