摘要
为加深对遗传代谢病的认识,本文从遗传代谢病筛查诊断系统的应用实际出发,通过国际国内遗传代谢病筛查的发展现状、最新进展、不足之处的分析,以及对该领域发展方向的展望,以加深临床医师对该类型疾病筛查和诊断经验,完善我国遗传代谢病筛查诊断体系,提高可治疗遗传代谢病的临床诊断率及救治率,促进该领域的发展。
This article reviews the present situation,progress,challenges,and the future developments for the screening and diagnosis of inherited metabolic disease(IMD)in both domestic and abroad in clinical practice,aiming to improve the screening and diagnosis system of IMD in China and to provide a reference for clinicians to increase the diagnosis and cure rate of treatable IMD,and promote the development of this field.
作者
封志纯
张万巧
Feng Zhichun;Zhang Wanqiao(Department of Pediatrics,Chinese PLA General Hospital,Bayi Children's Hospital,Clinical Medical College in the Seventh Medical Center of Chinese PLA General Hospital,Southern Medical University,National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology,Beijing Key Laboratory of Pediatric Organ Failure,Beijing 100700,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2021年第2期81-84,共4页
Chinese Journal of Perinatal Medicine
基金
国家重点研发计划(2018YFC1002700)。
关键词
代谢缺陷
先天性
新生儿筛查
串联质谱法
高通量核苷酸序列分析
Metabolism,inborn errors
Neonatal screening
Tandem mass spectrometry
High-throughput nucleotide sequencing
