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Volumn 32, Issue SUPPL. 1, 2009, Pages

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SLC25A13 PROTEIN, HUMAN;

EID: 84881057880     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1116-x     Document Type: Article
Times cited : (31)

References (17)
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  • 3
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    • Citrin deficiency, a perplexing global disorder
    • doi:10.1016/j.ymgme.2008.10.007
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  • 6
    • 0038217975 scopus 로고    scopus 로고
    • Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: A case report of siblings showing homozygous SLC25A13 mutation with and without the disease
    • DOI 10.1016/S1386-6346(02)00331-5
    • Imamura Y, Kobayashi K, Shibatou T, et al (2003) Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullianaemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol Res 26:68-72. doi:10.1016/S1386-6346(02)00331-5 (Pubitemid 36939934)
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  • 7
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    • Molecular basis of citrin deficiency
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    • (2004) Seikagaku , vol.76 , pp. 1543-1549
    • Kobayashi, K.1    Saheki, T.2
  • 11
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    • Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    • DOI 10.1007/s100380200046
    • Saheki T, Kobayashi K (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) J Hum Genet 47:333-341. doi:10.1007/s100380200046 (Pubitemid 34733510)
    • (2002) Journal of Human Genetics , vol.47 , Issue.7 , pp. 333-341
    • Saheki, T.1    Kobayashi, K.2
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    • doi:10.1007/s10038-008-0282-2
    • Tabata A, Sheng JS, Ushikai M, et al (2008) Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J Hum Genet 53:534-545. doi:10.1007/s10038-008-0282-2
    • (2008) J Hum Genet , vol.53 , pp. 534-545
    • Tabata, A.1    Sheng, J.S.2    Ushikai, M.3
  • 15
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    • Tsuboi Y, Fujino Y, Kobayashi K, et al (2001) High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia. Neurology. 57:933 (Pubitemid 32845530)
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    • Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2)
    • DOI 10.2169/internalmedicine.44.188
    • Yazaki M, Takei Y, Kobayashi K, et al (2005) Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Intern Med 44:188-195. doi:10.2169/ internalmedicine.44.188 (Pubitemid 40575896)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.