同胞姐妹近端肾小管酸中毒二例
摘要
肾小管酸中毒（RTA）是累及年轻女性较常见疾患，而先天RTA较罕见，它是由肾小管上皮细胞酶基因突变使其活性缺如或降低导致，现将我科诊治的两例报告如下。
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
2011年第1期70-70,共1页
Chinese Journal of Nephrology
参考文献2
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2邵乐平,陈楠,苗志敏.常染色体显性遗传性远端肾小管酸中毒一家系SLC4A1基因突变分析[J].中华肾脏病杂志,2010,26(4):243-247. 被引量：6
二级参考文献15
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共引文献5
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1高延霞,窦以河,隋爱华,郎艳华,邵乐平.常染色体隐性遗传性远端肾小管酸中毒患儿ATP6V0A4和ATP6V1B1基因突变分析[J].中华肾脏病杂志,2012,28(1):1-4. 被引量：10
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2高延霞,郎艳华,于琳琼,王晓慧,邵乐平.原发性远端肾小管酸中毒合并大前庭水管综合征突变基因分析[J].中华肾脏病杂志,2013,29(9):711-712. 被引量：5
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3张瑞晓,郎艳华,高延霞,陈泽庆,王翠,逯静茹,邵乐平.五例原发性远端肾小管酸中毒患儿的基因突变分析[J].中华肾脏病杂志,2018,34(6):410-417. 被引量：8
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4温丽华,杨汉华,刘惠平,陈耀舜.ATP6V0A4基因突变致远端肾小管酸中毒1例报告[J].国际医药卫生导报,2019,25(24):4088-4090.
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5郭文聪,董冰子,张瑞晓,刘志英,辛卿,石晓梦,韩玥,郎艳华,赵向忠,蔡琰,尤青青,孙艳,杜华晟,邵乐平.原发性远端肾小管酸中毒患者的基因突变分析和临床表型研究[J].中华肾脏病杂志,2021,37(9):712-722. 被引量：2
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