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The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases
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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。Abstract: Rare diseases, with the characteristics of abundant species, low prevalence, and difficulty in diagnosis and treatment, have drawn more and more attention from our country in recent years. Usually, conventional laboratory tests can not meet the requirements for the diagnosis of rare diseases. Due to its high specificity, the ability of simultaneously differentiating and quantifying various metabolites, and so on, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has attracted wide attention in clinical laboratories, and been gradually moving from scientific research to the forefront of clinical practice. Based on the first batch of rare diseases published in China, we summarized in this study the status and prospect of LC-MS/MS in the clinical application of diagnosing rare diseases.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：无
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