Art

J-GLOBAL ID：201802231277169752   Reference number：18A2159052

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

糖原病IV型における蛋白質発現研究によるGBE1変異の分析:文献レビューによる非進行型に関する報告【JST・京大機械翻訳】

Author (8)： Iijima Hiroyuki (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan) ,  Iwano Reiko (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan) ,  Tanaka Yukichi (Department of Pathology, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan) ,  Muroya Koji (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan) ,  Fukuda Tokiko (Department of Pediatrics, Hamamatsu University School of Medicine, Handayama, 1-20-1 Higashi-ku, Hamamatsu 431-3192, Japan) ,  Sugie Hideo (Faculty of Health and Medical Sciences, Tokoha University, Sena, 1-22-1 Aoi-ku, Shizuoka 420-0911, Japan) ,  Kurosawa Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan) ,  Adachi Masanori (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan)
Material： Molecular Genetics and Metabolism Reports
Volume： 17  Page： 31-37  Publication year： 2018 
JST Material Number： W2993A  ISSN： 2214-4269  Document type： Article
Article type： 文献レビュー  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Glycogen storage disease type ...

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Thesaurus term： *Proteins ,  Glycogen ,  perinatal period ,  Phenotype ,  heterojunction ,  neonate ,  Genotype ,  wild type ,  erythrocyte ,  Mutation ,  human ,  Escherichia coli ,  man ,  adult (person) ,  Epilepsy ,  *Genetic Variation ,  microorganism
Semi thesaurus term： *variation(biology) , 【Automatic Indexing@JST】

Author keywords (5)： Epilepsy ,  Functional analysis ,  Glycogen storage disease type IV ,  Glycogenosis glycogen branching enzyme 1 ,  GSD

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (7)： 糖原病IV型 ,  蛋白質発現 ,  研究 ,  変異 ,  分析 ,  文献レビュー ,  報告