메뉴 건너뛰기




Volumn 105, Issue 10, 2006, Pages 852-856

Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma

Author keywords

Adult onset citrullinemia; Hepatocellolar carcinoma; SLC25A13 gene; Steatosis

Indexed keywords

GENE PRODUCT; GENOMIC DNA; PROTEIN SLC25A13; UNCLASSIFIED DRUG;

EID: 33750846867     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60274-6     Document Type: Article
Times cited : (32)

References (16)
  • 1
    • 0036299910 scopus 로고    scopus 로고
    • Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    • 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). J Hum Genet 2002;47:333-41.
    • (2002) J Hum Genet , vol.47 , pp. 333-341
    • Saheki, T.1    Kobayashi, K.2
  • 2
    • 0033037729 scopus 로고    scopus 로고
    • The gene mutated in adult-onset type II citrullinemia encodes a putative mitachondrial carrier protein
    • Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinemia encodes a putative mitachondrial carrier protein. Nat Genet 1999;22: 159-63.
    • (1999) Nat Genet , vol.22 , pp. 159-163
    • Kobayashi, K.1    Sinasac, D.S.2    Iijima, M.3
  • 3
    • 0025372670 scopus 로고
    • Promoting effect of citrullinemia in hepatocarcinogenesis: Possible mechanisim in hypercitrullinemia
    • Nkamura M, Okamoto Y, Morita T, et al. Promoting effect of citrullinemia in hepatocarcinogenesis: possible mechanisim in hypercitrullinemia. Hepatology 1990;11:819-23.
    • (1990) Hepatology , vol.11 , pp. 819-823
    • Nkamura, M.1    Okamoto, Y.2    Morita, T.3
  • 4
    • 0035405977 scopus 로고    scopus 로고
    • A Chinese adult onset type II citrullinaemia patient with 851del4 /1638ins23 mutations in the SLC25A13 gene
    • Hwu WL, Kobayashi K, Hu YH, et al. A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene. J Med Genet 2001; 38:23.
    • (2001) J Med Genet , vol.38 , pp. 23
    • Hwu, W.L.1    Kobayashi, K.2    Hu, Y.H.3
  • 5
    • 0034770082 scopus 로고    scopus 로고
    • MRI in a case of adult-onset citrullinemia
    • Chen YF, Huang YC, Liu HM, et al. MRI in a case of adult-onset citrullinemia. Neuroradiology 2001;43:845-7.
    • (2001) Neuroradiology , vol.43 , pp. 845-847
    • Chen, Y.F.1    Huang, Y.C.2    Liu, H.M.3
  • 6
    • 0035025079 scopus 로고    scopus 로고
    • Hyperammonemia in urea cycle disorders: Role of the nephrologist
    • Mathias RS, Kostiner D, Packman S. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidney Dis 2001;37:1069-80.
    • (2001) Am J Kidney Dis , vol.37 , pp. 1069-1080
    • Mathias, R.S.1    Kostiner, D.2    Packman, S.3
  • 7
    • 33748490473 scopus 로고    scopus 로고
    • Multiple intrahepatic vascular shunts causing hyperammoniaemic encephalopathy in a patient without liver cirrhosis
    • Caturelli E, Ghittoni G, Niro GA, et al. Multiple intrahepatic vascular shunts causing hyperammoniaemic encephalopathy in a patient without liver cirrhosis. Dig Liver Dis 2006; 38:347-51.
    • (2006) Dig Liver Dis , vol.38 , pp. 347-351
    • Caturelli, E.1    Ghittoni, G.2    Niro, G.A.3
  • 8
    • 0142185092 scopus 로고    scopus 로고
    • Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations
    • Kobayashi K, Lu YB, Li MX, et al. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Mol Genet Metab 2003,80:356-9.
    • (2003) Mol Genet Metab , vol.80 , pp. 356-359
    • Kobayashi, K.1    Lu, Y.B.2    Li, M.X.3
  • 9
    • 0034771008 scopus 로고    scopus 로고
    • Type II (adult onset) citrullinaemia: Clinical pictures and the therapeutic effect of liver transplantation
    • Ikeda S, Yazaki M, Takei Y, et al. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J Neural Neurosurg Psychiatry 2001; 71:663-70.
    • (2001) J Neural Neurosurg Psychiatry , vol.71 , pp. 663-670
    • Ikeda, S.1    Yazaki, M.2    Takei, Y.3
  • 10
    • 5444224966 scopus 로고    scopus 로고
    • Chronic pancreatitis associated with adult-onset type II citrullinemia: Clinical and pathologic findings
    • Ikeda S, Kawa S, Takei Y, et al. Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings. Ann Intern Med 2004;141:109-10.
    • (2004) Ann Intern Med , vol.141 , pp. 109-110
    • Ikeda, S.1    Kawa, S.2    Takei, Y.3
  • 11
    • 12144289341 scopus 로고    scopus 로고
    • Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
    • Saheki T, Kobayashi K, Iijima M, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004;8:20-6.
    • (2004) Mol Genet Metab , vol.8 , pp. 20-26
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3
  • 12
    • 0242606867 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in a case of adult-onset type II citrullinemia
    • Hagiwara N, Sekijima Y, Takei Y, et al. Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Intern Med 2003;42:978-82.
    • (2003) Intern Med , vol.42 , pp. 978-982
    • Hagiwara, N.1    Sekijima, Y.2    Takei, Y.3
  • 13
    • 0034531004 scopus 로고    scopus 로고
    • Hepatocellular carcinoma associated with adult-type citrullinemia
    • Ito T, Shiraki K, Sekoguchi K, et al. Hepatocellular carcinoma associated with adult-type citrullinemia. Dig Dis Sci 2000;45:2203-6.
    • (2000) Dig Dis Sci , vol.45 , pp. 2203-2206
    • Ito, T.1    Shiraki, K.2    Sekoguchi, K.3
  • 14
    • 0842325861 scopus 로고    scopus 로고
    • Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: A method for identifying cancers sensitive to arginine deprivation
    • Dillon BJ, Prieto VG, Curley SA, et al. Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation. Cancer 2004;100:826-33.
    • (2004) Cancer , vol.100 , pp. 826-833
    • Dillon, B.J.1    Prieto, V.G.2    Curley, S.A.3
  • 15
    • 11344275293 scopus 로고    scopus 로고
    • Nonalcoholic steatohepatitis: Cirrhosis, hepatocellular carcinoma, and burnt-out NASH
    • Yoshioka Y, Hashimoto E, Yatsuji S, et al. Nonalcoholic steatohepatitis: cirrhosis, hepatocellular carcinoma, and burnt-out NASH. J Gastroenterol 2004;39:1215-18.
    • (2004) J Gastroenterol , vol.39 , pp. 1215-1218
    • Yoshioka, Y.1    Hashimoto, E.2    Yatsuji, S.3
  • 16
    • 2542424767 scopus 로고    scopus 로고
    • Hepatocellular carcinoma with nonalcoholic steatohepatitis
    • Mori S, Yamasaki T, Sakaida I, et al. Hepatocellular carcinoma with nonalcoholic steatohepatitis. J Gastroenterol 2004;39:391-6.
    • (2004) J Gastroenterol , vol.39 , pp. 391-396
    • Mori, S.1    Yamasaki, T.2    Sakaida, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.