Art

J-GLOBAL ID：201102236464524871   Reference number：11A0408182

Pathology, clinical features and treatments of congenital copper metabolic disorders - Focus on neurologic aspects

先天性銅代謝疾患の病理学,臨床的特徴と治療 - 神経学的側面に焦点をあて

Author (3)： KODAMA Hiroko (Dep. of Pediatrics, Teikyo Univ. School of Medicine, Tokyo 173-8605, JPN) ,  FUJISAWA Chie (Dep. of Pediatrics, Teikyo Univ. School of Medicine, Tokyo 173-8605, JPN) ,  BHADHPRASIT Wattanaporn (Dep. of Pediatrics, Teikyo Univ. School of Medicine, Tokyo 173-8605, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 33  Issue： 3  Page： 243-251  Publication year： Mar. 2011 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 文献レビュー  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *metabolic disease ,...
Semi thesaurus term： ATP7A ,...

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JST classification (1)： Metabolic diseases,nutritional diseases in general.  (GD05010J)

Reference (36)：

• Kodama H, Fujisawa C. Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment. Metallomics 2009;1:42-52.
• Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper-transporting ATPases. Physiol Rev 2007;87:1011-46.
• de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007;44:673-88.
• Moller LB, Mogensen M, Horn N. Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie 2009;91:1273-7.
• Gu YH, Kodama H, Shiga K, Nakata S, Yanagawa Y, Ozawa H. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis. J Inherit Metab Dis 2005;28:473-8.

Terms in the title (7)： 銅 ,  代謝疾患 ,  病理学 ,  臨床的特徴 ,  治療 ,  神経学 ,  焦点