文献

J-GLOBAL ID：201602292057398798   整理番号：16A0814866

成人発症グルタル酸血症II型の臨床的,生化学的,分子的検討 小児例との比較における特徴

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

著者 (20件)： Yamada Kenji (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Kobayashi Hironori (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Bo Ryosuke (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Takahashi Tomoo (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Purevsuren Jamiyan (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Hasegawa Yuki (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Taketani Takeshi (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Fukuda Seiji (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan) ,  Ohkubo Takuya (Department of Neurology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan) ,  Yokota Takanori (Department of Neurology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan) ,  Watanabe Mutsufusa (Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, Sumida-ku, Tokyo, Japan) ,  Tsunemi Taiji (Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA) ,  Mizusawa Hidehiro (National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan) ,  Takuma Hiroshi (Department of Neurology, University of Tsukuba Faculty of Medicine, Tsukuba, Ibaraki, Japan) ,  Shioya Ayako (Department of Neurology, University of Tsukuba Faculty of Medicine, Tsukuba, Ibaraki, Japan) ,  Ishii Akiko (Department of Neurology, University of Tsukuba Faculty of Medicine, Tsukuba, Ibaraki, Japan) ,  Tamaoka Akira (Department of Neurology, University of Tsukuba Faculty of Medicine, Tsukuba, Ibaraki, Japan) ,  Shigematsu Yosuke (Department of Pediatrics, University of Fukui Faculty of Medical Sciences, Yoshida-gun, Fukui, Japan) ,  Sugie Hideo (Faculty of Health and Medical Sciences, Tokoha University, Hamamatsu, Shizuoka, Japan) ,  Yamaguchi Seiji (Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 38  号： 3  ページ： 293-301  発行年： 2016年03月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 緒言:診断技術の使用の増加と共に脂肪酸β酸化障害を診断される...

シソーラス用語： ヒト ,...
準シソーラス用語： in vitroプローブアシルカルニチンアッセイ ,...

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著者キーワード (6件)： Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II) ,  Adult onset ,  Myopathy ,  Serum acylcarnitine ,  Immunoblotting ,  In vitro probe acylcarnitine assay

分類 (1件)： 代謝異常・栄養性疾患の診断  (GD05020U)

引用文献 (30件)：

• Hori D, Hasegawa Y, Kimura M, Yang Y, Verma IC, Yamaguchi S. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev 2005;27:39-45.
• Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 2002;77:86-90.
• Goodman SI, Frerman FE. Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency). J Inherit Metab Dis 1984;7(Suppl. 1):33-7.
• Frerman FE, Goodman SI. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Proc Natl Acad Sci USA 1985;82:4517-20.
• Lehnert W, Wendel U, Lindenmaier S, Böhm N. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings. Eur J Pediatr 1982;139:56-9.

タイトルに関連する用語 (7件)： 成人 ,  発症 ,  グルタル酸血症 ,  臨床 ,  生化学 ,  分子 ,  小児