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线粒体神经胃肠脑肌病研究进展 被引量：2

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摘要 线粒体神经胃肠脑肌病是一种罕见的多系统受累的常染色体隐性遗传性线粒体疾病,为编码胸苷磷酸化酶的TYMP基因突变所致。临床以神经系统和胃肠系统受累为主要表现。本文对其发病机制、临床特点、诊断及鉴别诊断等研究进展进行综述。
作者 王艳玲 王慧芳 郭军红 张金
机构地区 山西医科大学第一临床医学院神经内科 山西医科大学第一医院
出处 《中西医结合心脑血管病杂志》 2014年第6期750-752,共3页 Chinese Journal of Integrative Medicine on Cardio-Cerebrovascular Disease
基金 山西省科技攻关基金资助项目(No.20130313022-5)
关键词 线粒体神经胃肠脑肌病 胸苷磷酸化酶 TYMP基因 基因突变
分类号 R746 [医药卫生—神经病学与精神病学]
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参考文献28

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二级参考文献24

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中西医结合心脑血管病杂志
2014年 第6期

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