Art

J-GLOBAL ID：201402261907283585   Reference number：14A0833198

切望されるMenkes病の新生児マススクリーニング

Author (4)： KODAMA HIROKO (帝京大 医 小児科) ,  MOTOYAMA KAHOKO (帝京大 医 小児科) ,  SATO YASUHIRO (帝京大 医 小児科) ,  OGAWA EISHIN (帝京大 医 小児科)
Material： 日本マススクリーニング学会誌  (日本マス・スクリーニング学会誌)
Volume： 24  Issue： 1  Page： 25-29  Publication year： Jun. 01, 2014 
JST Material Number： L3053A  ISSN： 0917-3803  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： *Menkes' disease ,...

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JST classification (1)： Gynecologic and obstetrical diseases  (GS03000D)

Substance index (1)： Disulfiram

Reference (16)：

• Gu YH, Kodama H, Shiga K et al: A Survey of Japanese patients with Menkes disease from 1990 to 2003: inxident and early signs before typical symptomatic onset, pointing the way to earlier diagnosis J Inherited Metab Dis 28: 473-478, 2005.
• Kodama H, Fujisawa C. Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment. Metallomics 1:42-52, 2009.
• Kodama H, Fujisawa C, Bhadhprasit W. Pathology, clinical features and treatment of congenital copper metabolic diseases-Focus on neurologic aspects. Brain Dev 33: 243-251, 2011
• Kodama H, Meguro Y, Abe T, et al: Genetic expression of Menkes disease in cultured astrocytes of the macular mouse. J Inherited Metab Dis 1991; 14: 896-901.
• Kodama H, Fujisawa T, Bhadhprasit W: Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment. Curr Drug Metab 13: 237-250, 2012.

Terms in the title (2)： Menkes病 ,  新生児マススクリーニング