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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou China: Disease Spectrum Prevalence Genetic Characteristics in a Chinese Population

机译：通过苏州串联质谱法扩展新生儿筛查用于原始的新陈代谢误差中国：中国人口疾病谱患病率遗传特征

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期刊名称 Frontiers in Genetics
作者
Ting Wang; Jun Ma; Qin Zhang; Ang Gao; Qi Wang; Hong Li; Jingjing Xiang; Benjing Wang;
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年(卷),期 2019(-1),-1
年度 2019
页码 -1
总页数 18
原文格式 PDF
正文语种
中图分类遗传学;
关键词

机译：扩增新生儿筛查;原始的新生儿误差;串联质谱;疾病谱;患病率;遗传特征;热点突变;

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专利

1. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China [J] . Shujun Ma, Qinghe Guo, Zhongxin Zhang, Journal of clinical laboratory analysis. . 2020,第5期

机译：中国新生儿从中国新生儿串联质谱法扩大新生儿筛查原始误差
2. Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study [J] . Yuqi Yang, Leilei Wang, Benjing Wang, Frontiers in Genetics . 2019,第1期

机译：串联质谱检测后继测序技术在新生儿筛查先天性代谢错误中的应用：多中心研究
3. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry [J] . OzbenT. Clinical chemistry and laboratory medicine: CCLM . 2013,第1期

机译：扩大了新生儿筛查和确认性后续检测，以检测串联质谱检测到的先天性代谢错误
4. Analysis of Urinary Organic Acids by GC Tandem Mass Spectrometry for the Accurate Diagnosis of Inborn Errors of Metabolism [C] . American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2010

机译：GC串联质谱分析尿有有机酸，准确诊断原始误差的新陈代谢
5. Reproductive decisions in carriers of genetic disease: A survey of parents of children with inborn errors of metabolism [D] . Read, Catherine Yetter 2001

机译：遗传疾病携带者的生殖决策：对先天性代谢错误的儿童父母的调查
6. Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population [O] . Jianqiang Tan, Dayu Chen, Rongni Chang, 2021

机译：新生儿新生儿和高危婴婴儿原料误差的串联质谱筛查：中国人口的疾病谱和遗传特征
7. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population [O] . Ting Wang, Jun Ma, Qin Zhang, 2019

机译：通过苏州串联质谱法扩展新生儿筛查用于原始的新陈代谢误差，中国：中国人口疾病谱，患病率，遗传特征

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou China: Disease Spectrum Prevalence Genetic Characteristics in a Chinese Population

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