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J-GLOBAL ID：200902165276911385   Reference number：99A0730902

Molecular genetics and pathophysiology of Menkes disease.

Wilson病とMenkes病 Menkes病の分子遺伝学と病態生理学

Author (2)： KODAMA H (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  MURATA Y (Teikyo Univ. School of Medicine, Tokyo, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 41  Issue： 4  Page： 430-435  Publication year： Aug. 1999 
JST Material Number： Z0373B  ISSN： 1328-8067  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： mental retardation ,...

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (47)：

• VALENTINE, JS. Delivering copper inside yeast and human cells. Science. 1997, 278, 817-818
• KODAMA, H. Genetic disorders of copper metabolism. Toxicology of Metals. 1996, 371-386
• KODAMA, H. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr. Int. 1999, 41, 423-429
• DANKS, DM. Menkes' kinky hair syndrome: An inherited defect in copper absorption with widespread effects. Pediatrics. 1972, 50, 188-201
• DANKS, DM. Menkes' kinky hair disease. Further definition of the defect in copper transport. Science. 1973, 179, 1140-1142

Terms in the title (4)： Wilson病 ,  Menkes病 ,  分子遺伝学 ,  病態生理学