Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Krabbe Disease
Author:
Affiliation:
1. Departments of Chemistry
2. Department of Pediatrics and Neuropediatrics, Children’s Hospital, University of Goettingen, Goettingen, Germany
3. Pediatrics, and
4. Biochemistry, University of Washington, Seattle, WA
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/50/3/638/32735663/clinchem0638.pdf
Reference13 articles.
1. Application of tandem mass spectrometry to biochemical genetics and newborn screening
2. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
3. The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism
4. Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry
Cited by 70 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Krabbe Disease–To Add or Not to Newborn Screening?;OBM Genetics;2024-01-12
2. Over 50 Years of Population‐Based Dried Blood Spot Sampling of Newborns; Assuring Quality Testing and Lessons Learned;Patient Centric Blood Sampling and Quantitative Bioanalysis;2023-10-13
3. Advances in mass spectrometry-based multi-scale metabolomic methodologies and their applications in biological and clinical investigations;Science Bulletin;2023-10
4. An update on multiplexed mass spectrometry‐based lysosomal storage disease diagnosis;Mass Spectrometry Reviews;2023-08-16
5. Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2022-04
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3