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