遗传性铜代谢异常的致病机制及临床诊断
铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍。主要聚焦肝豆状核变性及其相关铜代谢异常的疾病。肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜蓝蛋白缺乏症及先天性糖基化异常等疾病又常给肝豆状核变性的临床诊断带来混淆和困惑。结合目前研究的最新进展及肝豆状核变性诊疗方面的经验,从肝病角度探讨遗传性铜代谢异常的致病机制及临床诊断。...
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| Published in | Linchuang gandanbing zazhi Vol. 35; no. 8; pp. 1667 - 1672 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
Changchun
Journal of Clinical Hepatology
01.08.2019
中山大学附属第三医院感染性疾病科,广州,510630 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1001-5256 2097-3497 |
| DOI | 10.3969/j.issn.1001-5256.2019.08.003 |
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| Abstract | 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍。主要聚焦肝豆状核变性及其相关铜代谢异常的疾病。肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜蓝蛋白缺乏症及先天性糖基化异常等疾病又常给肝豆状核变性的临床诊断带来混淆和困惑。结合目前研究的最新进展及肝豆状核变性诊疗方面的经验,从肝病角度探讨遗传性铜代谢异常的致病机制及临床诊断。 |
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| AbstractList | 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍。主要聚焦肝豆状核变性及其相关铜代谢异常的疾病。肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜蓝蛋白缺乏症及先天性糖基化异常等疾病又常给肝豆状核变性的临床诊断带来混淆和困惑。结合目前研究的最新进展及肝豆状核变性诊疗方面的经验,从肝病角度探讨遗传性铜代谢异常的致病机制及临床诊断。 R575%R589.9; 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍.主要聚焦肝豆状核变性及其相关铜代谢异常的疾病.肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜蓝蛋白缺乏症及先天性糖基化异常等疾病又常给肝豆状核变性的临床诊断带来混淆和困惑.结合目前研究的最新进展及肝豆状核变性诊疗方面的经验,从肝病角度探讨遗传性铜代谢异常的致病机制及临床诊断. |
| Author | 崇雨田 陈淑如 李新华 |
| AuthorAffiliation | 中山大学附属第三医院感染性疾病科,广州,510630 |
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| Author_FL | LI Xinhua CHEN Shuru CHONG Yutian |
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| Keywords | 金属代谢缺陷,先天性 诊断 铜 肝疾病 |
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| Snippet | 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍。主要聚焦肝豆状核变性及其相关铜代谢异常的疾病。肝豆状核变性临床表型多样,而胆汁淤积性肝病、遗传性铜... R575%R589.9; 铜是人体重要的微量元素,铜缺乏或过载均会导致一系列的机体功能障碍.主要聚焦肝豆状核变性及其相关铜代谢异常的疾病.肝豆状核变性临床表型多样,而胆汁淤积性... |
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