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液相色谱串联质谱技术在罕见病诊断中的临床应用

禹松林 王丹晨 邹雨桐 马晓丽 邱玲

禹松林, 王丹晨, 邹雨桐, 马晓丽, 邱玲. 液相色谱串联质谱技术在罕见病诊断中的临床应用[J]. 协和医学杂志, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324
引用本文: 禹松林, 王丹晨, 邹雨桐, 马晓丽, 邱玲. 液相色谱串联质谱技术在罕见病诊断中的临床应用[J]. 协和医学杂志, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324
YU Songlin, WANG Danchen, ZOU Yutong, MA Xiaoli, QIU Ling. The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324
Citation: YU Songlin, WANG Danchen, ZOU Yutong, MA Xiaoli, QIU Ling. The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324

液相色谱串联质谱技术在罕见病诊断中的临床应用

doi: 10.12290/xhyxzz.2021-0324
基金项目: 

北京市临床重点专科医学检验科卓越项目 ZK201000

首都卫生发展科研专项 2020-1-4014

郑洛新国家自主创新示范区创新引领型产业集群专项 201200211100

详细信息
    通讯作者:

    邱玲  电话:010-69159712,E-mail:lingqiubj@163.com

  • 中图分类号: R446.1

The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases

Funds: 

Beijing Key Clinical Specialty for Laboratory Medicine-Excellent Project ZK201000

Capital's Funds for Health Improvement and Research 2020-1-4014

Innovation-led Industrial Cluster Project of Zheng-Luo-Xin National Innovation Demonstration Area 201200211100

More Information
  • 摘要: 罕见病具有种类多、发病率低、诊治困难等特点,近年来备受国家重视。常规实验室检测项目往往不能满足罕见病的诊断需求,液相色谱串联质谱(liquid chromatography-tandem mass spectrometry, LC-MS/MS)技术以其特异度高、可同时区分/定量多种代谢物等特点而广泛受到临床关注,正逐渐从科研应用走向实践前沿。本文以我国第一批罕见病目录为主线,分析LC-MS/MS技术在罕见病诊断中的临床应用现状及前景。
    作者贡献:禹松林负责整理文献、撰写论文;王丹晨、邹雨桐、马晓丽负责文献查阅与收集;邱玲负责修订、审核论文。
    利益冲突:
  • 图  1  北京协和医院检验科类固醇激素检验报告模板

    A代表检测结果;B代表参考范围;OHase:羟化酶; lyase: 裂解酶; HSD: 羟基类固醇脱氨酶;Aromatase: 芳香化酶;5AR:5α-还原酶;AS: 醛固酮合酶

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出版历程
  • 收稿日期:  2021-04-12
  • 录用日期:  2021-04-29
  • 网络出版日期:  2021-06-28
  • 刊出日期:  2021-07-30

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