Art

J-GLOBAL ID：201102266122483410   Reference number：11A1679894

X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan

X連鎖性副腎白質ジストロフィー:日本における診断およびフォローアップシステム

Author (7)： SHIMOZAWA Nobuyuki (Gifu Univ., Gifu, JPN) ,  HONDA Ayako (Gifu Univ., Gifu, JPN) ,  KAJIWARA Naomi (Gifu Univ., Gifu, JPN) ,  KOZAWA Sachi (Gifu Univ., Gifu, JPN) ,  NAGASE Tomoko (Gifu Univ., Gifu, JPN) ,  TAKEMOTO Yasuhiko (Gifu Univ., Gifu, JPN) ,  SUZUKI Yasuyuki (Gifu Univ. School of Medicine, Gifu, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 56  Issue： 2  Page： 106-109  Publication year： Feb. 2011 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 解説  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： nervous system disease ,...
Semi thesaurus term： ABCD1 ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=11A1679894&from=J-GLOBAL&jstjournalNo=Z0756A") }}

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Clinical neurology in general  (GN01030H)

Reference (11)：

• MOSER, H. W. X-linked adrenoleukodystrophy. The Metabolic and Molecular Basis of Inherited Disease. 2001, 3257-3301
• PETERS, C. Cerebral X-linked adrenoleukodystrophy : the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 2004, 104, 881-888
• TAKEMOTO, Y. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev. 2003, 25, 481-487
• MOSER, A. B. Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controls. Ann. Neurol. 1999, 45, 100-110
• BOEHM, C. D. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol. Genet. Metab. 1999, 66, 128-136

Terms in the title (4)： 副腎白質ジストロフィー ,  日本 ,  診断 ,  フォローアップシステム