Cystic fibrosis newborn screening: A model for neuromuscular disease screening?
Author:
Affiliation:
1. Department of Neurology; University of Rochester Medical Center; Rochester NY
2. Department of Pediatrics; University of Wisconsin School of Medicine and Public Health; Madison WI
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24316/fullpdf
Reference64 articles.
1. Principles and practice of mass screening for disease [in Spanish];Wilson;Bol Oficina Sanit Panam,1968
2. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening;Trotter;Genet Med,2011
3. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence;Enns;Mol Genet Metab,2010
4. Genetic screening: programs, principles, and research-thirty years later. Reviewing the recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM);Simopoulos;Public Health Genomics,2009
5. Pompe disease: early diagnosis and early treatment make a difference;Chien;Pediatr Neonatol,2013
Cited by 19 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. Why cystic fibrosis newborn screening programs have failed to meet original expectations… thus far;Molecular Genetics and Metabolism;2023-09
2. Description of a Colocated Comprehensive Care Model for People With Sickle Cell and Comorbid Pulmonary Disease;Journal of Pediatric Hematology/Oncology;2023-03-06
3. A complicated association between two different genetic rare disorders: cystic fibrosis and spinal muscular atrophy;Minerva Pediatrics;2023-01
4. Diagnostic criteria for spinal muscular atrophy 5q;Neuromuscular Diseases;2021-12-13
5. Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery;Pediatric Neurology;2021-12
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