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Journal Abstract Search

247 related items for PubMed ID: 24484564

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  • 2. [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].
    Xing YZ, Qiu WJ, Ye J, Han LS, Xu SS, Zhang HW, Gao XL, Wang Y, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Apr; 27(2):180-5. PubMed ID: 20376801
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  • 7. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.
    Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T.
    Mol Genet Metab; 2004 Nov; 83(3):213-9. PubMed ID: 15542392
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  • 8. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
    Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, Saheki T.
    J Inherit Metab Dis; 2007 Apr; 30(2):139-44. PubMed ID: 17323144
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  • 9. [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].
    Song YZ, Ushikai M, Sheng JS, Iijima M, Kobayashi K.
    Zhonghua Er Ke Za Zhi; 2007 Jun; 45(6):408-12. PubMed ID: 17880783
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  • 14. A novel citrin deficiency mutation in a cholestatic infant.
    Ricciuto A, Buhas D.
    J Pediatr Gastroenterol Nutr; 2014 Dec; 59(6):e52. PubMed ID: 25187103
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  • 15. [Molecular basis of citrin deficiency].
    Kobayashi K, Saheki T.
    Seikagaku; 2004 Dec; 76(12):1543-59. PubMed ID: 15675368
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  • 17. Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.
    Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S.
    Mol Genet Metab; 2012 Apr; 105(4):553-8. PubMed ID: 22277121
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  • 18. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
    Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY.
    Dig Liver Dis; 2009 Sep; 41(9):683-9. PubMed ID: 19185551
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  • 19. Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.
    Shigeta T, Kasahara M, Kimura T, Fukuda A, Sasaki K, Arai K, Nakagawa A, Nakagawa S, Kobayashi K, Soneda S, Kitagawa H.
    Pediatr Transplant; 2010 Nov; 14(7):E86-8. PubMed ID: 19413723
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  • 20. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.
    Chen HW, Chen HL, Ni YH, Lee NC, Chien YH, Hwu WL, Huang YT, Chiu PC, Chang MH.
    J Pediatr Gastroenterol Nutr; 2008 Aug; 47(2):187-92. PubMed ID: 18664871
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