Newborn Screening: Gaps in the Evidence
Author:
Affiliation:
1. The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
2. The University of Sydney, Sydney, New South Wales 2008, Australia.
Abstract
Publisher
American Association for the Advancement of Science (AAAS)
Subject
Multidisciplinary
Reference19 articles.
1. Guthrie R., Susi A., Pediatrics 32, 338 (1963).
2. Guthrie R., Whitney S., “Phenylketonuria detection in the newborn infant as a routine hospital procedure” [Publication 419, U.S. Department of Health, Education, and Welfare (HHS), Washington, DC, 1964].
3. Preliminary report on a mass screening program for neonatal hypothyroidism
4. Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
5. Wilson M. G., Jungner G., “Principles and practice of screening for disease” (Public Health papers 34, World Health Organization, Geneva, 1968).
Cited by 22 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. Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation;Molecular Genetics and Metabolism;2023-11
2. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study;Journal of Medical Genetics;2023-07-24
3. Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening;Journal of Inherited Metabolic Disease;2022-03-11
4. Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach;Journal of Inherited Metabolic Disease;2022-02-03
5. Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis;Molecular Genetics and Metabolism;2021-09
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