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线粒体神经胃肠脑肌病一例临床、病理及基因分析 被引量:8

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摘要 线粒体神经胃肠脑肌病(MNGIE)是一组以胃肠道症状、恶液质、周围神经病、眼外肌麻痹、白质脑病为临床表现的线粒体病[1-4].目前国内有关该病的临床、病理及基因研究报道较少.我们报道1例临床表现典型的MNGIE患者,对其临床、病理、线粒体及脱氧胸腺嘧啶核苷磷酸化酶(thymidine phosphorylase,TP)基因进行分析.
出处 《中华神经科杂志》 CAS CSCD 北大核心 2014年第1期26-29,共4页 Chinese Journal of Neurology
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参考文献13

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共引文献41

同被引文献138

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