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- W4313489023 abstract "经典的线粒体病是指线粒体基因或者编码线粒体蛋白的核基因变异导致的一组遗传病。线粒体病病因及遗传方式复杂，临床表现多样，表型谱尚在扩展中。患者可从胎儿期到成年发病，受损脏器及程度不同，症状轻重不一，常见多脏器损伤，致残及致死率高。线粒体病临床诊断困难，需依靠生化代谢、影像、病理、基因分析及线粒体呼吸链功能分析确诊。随着对机制研究的深入，少数类型的线粒体病可以通过饮食、药物或基因治疗获得精准干预，预后显著改善。本文综述经典的线粒体病的病因、发病机制、临床表现、诊断、治疗、遗传咨询及产前诊断的研究进展。." @default.
- W4313489023 created "2023-01-06" @default.
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- W4313489023 date "2023-01-02" @default.
- W4313489023 modified "2023-10-16" @default.
- W4313489023 title "[Advances in diagnosis, treatment and prevention of mitochondrial diseases]." @default.
- W4313489023 doi "https://doi.org/10.3760/cma.j.cn112140-20220629-00599" @default.
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