Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Author:

Sobczyńska-Tomaszewska Agnieszka, ,Ołtarzewski Mariusz,Czerska Kamila,Wertheim-Tysarowska Katarzyna,Sands Dorota,Walkowiak Jarosław,Bal Jerzy,Mazurczak Tadeusz

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Kosorok MR, Wei WH, Farrell PM : The incidence of cystic fibrosis. Stat Med 1996; 15: 449–462.

2. Bozkowa K, Golebiowska H, Rutkowski J, Nowakowska A, Holzer J : Epidemiology of muscoviscidosis in children in Poland. Pediatr Pol 1971; 46: 677–684.

3. Stężowska-Kubiak S : Clinical and epidemiological characteristics of the Polish cystic fibrosis patients. (Doctoral dissertation in Polish). University of Medical Sciences, Poznań, 2001.

4. Farrell PM, Kosorok MR, Rock MJ et al: Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001; 107: 1–13.

5. Hale JE, Parad RB, Dorkin HL et al: Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. J Inherit Metab Dis 2010; 33 ((Suppl 2):): S255–S261.

同舟云学术

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