Art

J-GLOBAL ID：200902157989238858   Reference number：99A0730901

Clinical manifestations and treatment of Menkes disease and its variants.

Wilson病とMenkes病 Menkes病とその変異型に対する臨床症状の発現と治療法

Author (3)： KODAMA H (Teikyo Univ. School of Meicine, Tokyo, JPN) ,  MURATA Y (Teikyo Univ. School of Meicine, Tokyo, JPN) ,  KOBAYASHI M (Teikyo Univ. School of Meicine, Tokyo, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 41  Issue： 4  Page： 423-429  Publication year： Aug. 1999 
JST Material Number： Z0373B  ISSN： 1328-8067  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *metabolic brain disease ,...
Semi thesaurus term： mental retardation ,...

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

Reference (50)：

• MENKES, JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962, 29, 764-769
• DANKS, DM. Menkes' kinky hair syndrome: An inherited defect in copper absorption with widespread effects. Pediatrics. 1972, 50, 188-201
• DANKS, DM. Disorders of copper transport. The Metabolic and Molecular Basis of Inherited Disease. 1995, 2211-2235
• KODAMA, H. Genetic disorders of copper metabolism. Toxicology of Metals. 1996, 371-386
• LAZOFF, SG. Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy: A new hereditary syndrome. Birth Defects. 1975, 11, 71-74

Terms in the title (6)： Wilson病 ,  Menkes病 ,  変異型 ,  臨床症状 ,  発現 ,  治療法