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J-GLOBAL ID：200902104873270405   Reference number：01A0796858

Transient temporal lobe changes and a novel mutation in a patient with Menkes disease.

Menkes病患者における一過性側頭葉変化と新規突然変異

Author (5)： OZAWA H (Tokyo Metropolitan Hachioji Children’s Hospital, Tokyo, JPN) ,  KODAMA H (Teikyo Univ., Tokyo, JPN) ,  MURATA Y (Teikyo Univ., Tokyo, JPN) ,  TAKASHIMA S (National Center of Neurology and Psychiatry (NCNP), Tokyo, JPN) ,  NOMA S (Tokyo Metropolitan Hachioji Children’s Hospital, Tokyo, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 43  Issue： 4  Page： 437-440  Publication year： Aug. 2001 
JST Material Number： Z0373B  ISSN： 1328-8067  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： computed tomography ,...

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JST classification (3)： Drug therapy(=pharmacotherapy)for nervous system diseases  (GN05020Y) ,  Treatment for congenital diseases,deformities.  (GD03030R) ,  Treatment for metabolic diseases,nutritional diseases.  (GD05030F)

Substance index (4)： Valproic acid ,  Carbamazepine ,  Phenytoin ,  Histidine

Reference (10)：

• MENKES, JH. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics. 1962, 29, 764-779
• VULPE, C. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 1993, 3, 7-13
• KODAMA, H. Genetic disorders of copper metabolism. Toxicology of metals. 1996, 371-386
• FAERBER, EN. Cerebral MR of Menkes kinky-hair disease. AJNR Am. J. Neuroradiol. 1989, 10, 190-192
• JOHNSEN, DE. MR of progressive neurodegenerative change in treated Menkes' kinky hair disease. Neuroradiology. 1991, 33, 181-182

Terms in the title (4)： Menkes病 ,  患者 ,  側頭葉 ,  突然変異