期刊文献+

citrin缺陷导致的新生儿肝内胆汁淤积症临床分析

原文传递
导出
出处 《江苏医药》 CAS CSCD 北大核心 2009年第10期1228-1229,共2页 Jiangsu Medical Journal
  • 相关文献

参考文献7

  • 1Ohura T,Kobayashi K,Tazawa Y,et al. Neonatal presentation of adult-onset type Ⅱ citrullinemia[J]. Hum Genet, 2001,108 (2) :87-90. 被引量:1
  • 2Song YZ, Li BX, Hao H, et al. Selective screening for inborn errors of metabolism and secondary Methylmalonic Aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by CA2-MS in China [J]. Clin Bioehem, 2008,41(7-8) :616-620. 被引量:1
  • 3Ohura T, Kobayashi K, Tazawa Y, et al. Clinical pictures of 75 patientswith neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J]. J Inherit Metab Dis,2007,30(2) : 139- 144. 被引量:1
  • 4Saheki T, Kobayashi K. Physiological role of citrin, a liver-type mitochondrial aspartate-glutamate carrier, and pathophysiology of citrin deficiency. In:Pandalia,ed. Recent Res Devel Life Sci [M]. Kerata(India) : Research Signpost, 2005 : 59-73. 被引量:1
  • 5宋元宗,郝虎,牛饲美晴,柳国胜,肖昕,佐伯武顿,小林圭子,王自能.疑难病研究—citrin缺陷导致的新生儿肝内胆汁淤积症[J].中国当代儿科杂志,2006,8(2):125-128. 被引量:68
  • 6邱文娟,叶军,韩连书,高晓岚,王瑜,杨培蓉,何振娟,顾学范.citrin缺陷导致的新生儿肝内胆汁淤积症12例临床和实验室研究[J].临床儿科杂志,2007,25(12):983-987. 被引量:31
  • 7Tamamori A, Okano Y, Ozaki H, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation[J]. Eur J Pediatr, 2002,161(11) : 609-613. 被引量:1

二级参考文献20

  • 1顾学范,韩连书,高晓岚,杨艳玲,叶军,邱文娟.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404. 被引量:142
  • 2宋元宗,郝虎,牛饲美晴,柳国胜,肖昕,佐伯武顿,小林圭子,王自能.疑难病研究—citrin缺陷导致的新生儿肝内胆汁淤积症[J].中国当代儿科杂志,2006,8(2):125-128. 被引量:68
  • 3Ohura T,Kobayashi K,Tazawa Y,Nishi I,Abukawa D,Sakamoto O,et al.Neonatal presentation of adult-onset type Ⅱ eitrullinemia[J].Hum Genet,2001,108 (2):87-90. 被引量:1
  • 4Tazawa Y,Kobayashi K,Ohura T,Abukawa D,Nishinomiya F,Hosada Y,et al.Infantile cholestatic jaundice associated with adult-onset type Ⅱ citrullinemia[J].J Pediatr,2001,138 (5):735-740. 被引量:1
  • 5Lu YB,Kobayashi K,Ushikai M,Tabata A,Iijima M,Li MX,et al.Frequency and distribution in east Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency[J].J Hum Genet,2005,50(7):338-346. 被引量:1
  • 6Saheki T,Kobayashi K.Physiological role of citrin,a liver-type mitochondrial aspartate-glutamate carrier,and pathophysiology of citrin deficiency.In:Pandalai,ed.Recent Res Devel Life Sci[M].Kerala(India):Research Signpost,2005,59-73. 被引量:1
  • 7Saheki 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].J Hum Genet,2002,47(7):333-341. 被引量:1
  • 8Ohura T,Kobayashi K,Abukawa D,Tazawa Y,Aikawa J,Sakamoto O,et al.A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening:neonatal intrahepatic cholestasis caused by citrin deficiency[J].Eur J Pediatr,2003,162(2):317-322. 被引量:1
  • 9Tazawa Y,Kobayashi K,Abukawa D,Nagata I,Maisawa S,Sumazaki R,et al.Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency:case reports from 16 patients[J].Mol Genet Metab,2004,83(3):213-219. 被引量:1
  • 10Tamamori A,Okano Y,Ozaki H,Fujimoto A,Kajiwara M,Fukuda K,et al.Neonatal intrahepatic cholestasis caused by citrin deficiency:severe hepatic dysfunction in an infant requiring liver transplantation[J].Eur J Pediatr,2002,161 (11):609-613. 被引量:1

共引文献80

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部