Art

J-GLOBAL ID：200902215569793660   Reference number：03A0768010

Hepatocellular Carcinoma in a Case of Adult-onset Type II Citrullinemia

成人発症II型シトルリン血症の1症例における肝細胞癌

Author (7)： HAGIWARA N (Shinshu Univ. School of Medicine, Matsumoto) ,  SEKIJIMA Y (Shinshu Univ. School of Medicine, Matsumoto) ,  TAKEI Y (Shinshu Univ. School of Medicine, Matsumoto) ,  IKEDA S (Shinshu Univ. School of Medicine, Matsumoto) ,  KAWASAKI S (Shinshu Univ. School of Medicine, Matsumoto) ,  KOBAYASHI K (Kagoshima Univ., Kagoshima) ,  SAHEKI T (Kagoshima Univ., Kagoshima)
Material： Internal Medicine  (Intern Med)
Volume： 42  Issue： 10  Page： 978-982  Publication year： Oct. 2003 
JST Material Number： Z0157B  ISSN： 0918-2918  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *inborn errors of metabolism ,...
Semi thesaurus term： citrullinemia ,...

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JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U) ,  Tumors(=neoplasms)of digestive system  (GH04000D)

Reference (19)：

• 1) Brishilow SW, Horwich AL. Urea cycle enzymes, in: The Metabolic and Molecular Basis of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. 7th ed. McGraw-Hill Information Service Co., New York, 1995: 1187.
• 2) Saheki T, Kobayashi K, Inoue I. Hereditary disorders of the urea cycle in man: biochemical and molecular approaches. Rev Physiol Biochem Pharmacol 108: 21-68, 1987.
• 3) Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adultonset type II citrullinemia encodes a putative mitochondrial carrier protein. Nat Genet 22: 159-163, 1999.
• 4) Ikeda S, Yazaki M, Takei Y, et al. Type II (adult onset) citrullinemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry 71: 663-670, 2001.
• 5) Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Human Genet 47: 333-341, 2002.

Terms in the title (3)： 成人発症II型シトルリン血症 ,  症例 ,  肝細胞癌