Citrin缺陷致新生儿肝内胆汁淤积症及基因分析2例

郑文彬

中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (6) : 671-672.

PDF(281 KB)
PDF(281 KB)
中国儿童保健杂志 ›› 2015, Vol. 23 ›› Issue (6) : 671-672. DOI: 10.11852/zgetbjzz2015-23-06-35
个案报道

Citrin缺陷致新生儿肝内胆汁淤积症及基因分析2例

  • 郑文彬
作者信息 +
文章历史 +

引用本文

导出引用
郑文彬. Citrin缺陷致新生儿肝内胆汁淤积症及基因分析2例[J]. 中国儿童保健杂志. 2015, 23(6): 671-672 https://doi.org/10.11852/zgetbjzz2015-23-06-35
中图分类号: R722.1   

参考文献

[1] 宋元宗,郝虎,牛饲美晴,等.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.
[2] Wang JS,Wang XH,Zheng YJ,et al.Biochemical characteristics of neonatal cholestasis induced by citrin deficiency[J].Word J Gastroenterology,2012,18(39):5601-5607.
[3] 张绍仁,王晓红,朱启镕,等.婴儿肝内胆汁淤积症SLC25A13基因突变分析[J].中国循证儿科杂志,2008,3(3):190-195.
[4] Lu YB,Kobayashi K,Ushikai M,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.
[5] Song 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 GC-MS in China[J].Clinical Biochemistry,2008,41(7-8):616-620.
[6] Kikuchi A,Arai-Ichinoi N,Sakamoto O,et al.Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13[J].Mol Genet Metab,2012,105(4):553-558.
[7] Kobayashi K,Ushikai M,Tabata A,et al.Overview of citrin deficiency:SLC25A13 mutations and the frequency[J].实用儿科临床杂志,2008,23(20):1553-1557.
[8] Nagasaka H,Okano Y,Tsukahara H,et al.Sustaining hypercitrullinemia,hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period[J].Mol Genet Metab,2009,97(1):21-26.
[9] 宋元宗,小林圭子.Citrin缺陷病[J].实用儿科临床杂志,2008,23(20):1564-1565.

PDF(281 KB)

Accesses

Citation

Detail

段落导航
相关文章

/