The Challenge and promise of rare disease diagnosis in China

查看全文 作　　者：Xin [1]Ni;Tieliu [3]Shi

机构地区：[1]Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China;[2] Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China;[3]The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai 200241, China

出　　处：《Science China(Life Sciences)》索引2017年第60卷第7期,共5页

摘　　要：Rare diseases are chronic and serious,featuring early onset at birth or in childhood,rapid deterioration and high mortality rate,which creates a burden on society and public health systems.Of the known rare diseases,80 percent are genetic in origin,and half of those affected worldwide are children.In China,the rare disease patients are over 10 million,and70 percent of the patients are children(Song et al.,2012;Liu et al.,2010). 关键词：中国诊断卫生系统 SONG 死亡率疾病患者

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The Challenge and promise of rare disease diagnosis in China

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