citrin缺陷导致的新生儿肝内胆汁淤积症临床分析
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
参考文献7
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二级参考文献20
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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
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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
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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
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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
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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
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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
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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
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共引文献80
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1王爱丽,牛焕红,成胜权.婴儿Citrin蛋白缺乏症1例[J].发育医学电子杂志,2014,2(1):32-33. 被引量:3
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2鲁耀邦,彭菲,李孟贤,小林圭子,佐伯武赖.希特林蛋白缺乏症的研究进展及展望[J].中华医学遗传学杂志,2006,23(6):655-658. 被引量:16
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3宋元宗,牛饲美晴,盛建胜,饭岛干雄,小林圭子.Citrin缺陷导致的新生儿肝内胆汁淤积症家系SLC25A13基因突变研究[J].中华儿科杂志,2007,45(6):408-412. 被引量:20
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4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
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5董永绥.婴儿胆汁淤积的发病机制和诊断思路[J].中国实用儿科杂志,2008,23(1):1-3. 被引量:9
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6谢利娟,朱建幸,朱晓东,李华军,韩连书,顾学范.经高危筛查发现的遗传性代谢病15例分析[J].中国当代儿科杂志,2008,10(1):31-34. 被引量:13
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7张绍仁,王晓红,朱启镕,刘丽艳,王建设.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. 被引量:21
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8张绍仁,王建设,王晓红,朱启镕,刘丽艳.血氨基酸异常婴儿肝内胆汁淤积症患者SLC25A13基因的突变谱[J].中华肝脏病杂志,2008,16(6):445-448. 被引量:6
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9陈智能,苏维,宋新志,邝爱玲,李琳.Citrin缺陷导致的以腹胀、乳糜腹为突出表现的新生儿肝内胆汁淤积症[J].湘南学院学报(医学版),2008,10(2):54-56. 被引量:6
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10Keiko Kobayashi,Miharu Ushtkai,Yuan - Zong Song,Hong - Zhi Gao,Jian - Sheng Sheng,Ayako Tabata,Furnihiko Okumura,Sayaka lkeda,Takeyori Saheki.Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency[J].实用儿科临床杂志,2008,23(20):1553-1557. 被引量:26
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1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. 被引量:2
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2刘艳,黄志华,徐三清,黄永建,周华.遗传代谢病筛查在婴儿肝炎综合征病因诊断中的意义[J].世界华人消化杂志,2015,23(2):261-266. 被引量:1
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3李保敏,孙若鹏.婴儿Citrin缺陷病3例[J].中国实用儿科杂志,2011,26(11):877-878. 被引量:3
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4郭红梅,刘志峰,林谦,李玫,金玉.Citrin缺陷导致的新生儿肝内胆汁淤积症11例临床特征分析[J].南京医科大学学报(自然科学版),2010,30(6):883-885. 被引量:1
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5邢雅智,邱文娟,叶军,韩连书,许姗姗,张惠文,高晓岚,王瑜,顾学范.Citrin缺陷导致的新生儿肝内胆汁淤积症临床和SLC25A13基因突变的研究[J].中华医学遗传学杂志,2010,27(2):180-185. 被引量:43
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6俞蕙,葛艳玲.Citrin缺陷导致的新生儿肝内胆汁淤积症[J].中华实用儿科临床杂志,2014,29(22):1686-1689. 被引量:5
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7陈子江,颜军昊.病毒感染及遗传性代谢病的产前筛查[J].实用妇产科杂志,2006,22(3):131-132.
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8张领领,鄢素琪,周俪姗,熊小丽,江治霞,汤建桥,袁凯.Citrin缺陷导致新生儿肝内胆汁淤积症的临床特征及中药利胆合剂治疗效果观察[J].中国中西医结合急救杂志,2017,24(2):133-136. 被引量:11
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9Keiko Kobayashi,Miharu Ushtkai,Yuan - Zong Song,Hong - Zhi Gao,Jian - Sheng Sheng,Ayako Tabata,Furnihiko Okumura,Sayaka lkeda,Takeyori Saheki.Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency[J].实用儿科临床杂志,2008,23(20):1553-1557. 被引量:26
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10樊春(综述),刘丽(审校),陈耀勇(审校).Citrin缺陷所致新生儿肝内胆汁淤积症研究进展[J].国际儿科学杂志,2009,36(3):306-309.