Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference29 articles.
1. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening;Nennstiel-Ratzel;Mol Genet Metab,2005
2. Newborn screening compared to clinical identification of biochemical genetic disorders;Waisbren;J Inherit Metab Dis,2002
3. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications;Schulze;Pediatrics,2003
4. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N Engl J Med,2003
5. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program;Zytkovicz;Clin Chem,2001
Cited by 146 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. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04
2. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study;European Journal of Paediatric Neurology;2024-03
3. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024
4. Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence;Journal of Inborn Errors of Metabolism and Screening;2024
5. The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings;Journal of Community Genetics;2023-10-17
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