估算囊性纤维化新生儿筛查假阴性检测的年度数量。 - Suppr

Suppr

超能文献

Estimating the annual number of false negative cystic fibrosis newborn screening tests.

作者信息

Fritz Adam, Farrell Philip

出版信息

Pediatr Pulmonol. 2012 Feb;47(2):207-8. doi: 10.1002/ppul.21561. Epub 2011 Nov 11.

DOI:10.1002/ppul.21561

PMID:22081583

Abstract

摘要

相似文献

Estimating the annual number of false negative cystic fibrosis newborn screening tests.估算囊性纤维化新生儿筛查假阴性检测的年度数量。

Pediatr Pulmonol. 2012 Feb;47(2):207-8. doi: 10.1002/ppul.21561. Epub 2011 Nov 11.

Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations.通过检测胰蛋白酶原浓度进行全州范围内囊性纤维化新生儿筛查的效果。

N Engl J Med. 1991 Sep 12;325(11):769-74. doi: 10.1056/NEJM199109123251104.

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.科罗拉多州基于两层免疫反应性胰蛋白酶原的囊性纤维化新生儿筛查：筛查效果与诊断结果

J Pediatr. 2005 Sep;147(3 Suppl):S83-8. doi: 10.1016/j.jpeds.2005.08.005.

Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels.由于免疫反应性胰蛋白酶原水平随年龄下降，囊性纤维化的新生儿筛查变得复杂。

Pediatrics. 1990 Jun;85(6):1001-7.

[The French nationwide cystic fibrosis newborn screening program: strategy and results].[法国全国囊性纤维化新生儿筛查项目：策略与结果]

Arch Pediatr. 2008 Jun;15 Suppl 1:S1-6. doi: 10.1016/S0929-693X(08)73940-X.

Positive neonatal screening for cystic fibrosis in neonates with renal failure.对肾衰竭新生儿进行囊性纤维化的阳性新生儿筛查。

Thorax. 2010 Jul;65(7):652-3. doi: 10.1136/thx.2010.130187.

Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen.通过对免疫反应性胰蛋白酶原的初步分析，阐明影响囊性纤维化新生儿筛查的实验室和临床变量。

Pediatrics. 2009 Feb;123(2):e338-46. doi: 10.1542/peds.2008-1681.

[Neonatal screening for cystic fibrosis].[新生儿囊性纤维化筛查]

An Esp Pediatr. 2002 Jul;57(1):60-5.

False negative cystic fibrosis newborn screen.囊性纤维化新生儿筛查假阴性

Clin Pediatr (Phila). 2010 Mar;49(3):214-6. doi: 10.1177/0009922809342893.

[Implementation of the neonatal cystic fibrosis screening program in Switzerland: beginning January 2011].

Rev Med Suisse. 2011 Feb 23;7(283):456, 458-60.

引用本文的文献

Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.提高加利福尼亚新生儿筛查计划对所有种族和族裔的囊性纤维化检测率。

Pediatr Pulmonol. 2024 Nov;59(11):2901-2909. doi: 10.1002/ppul.27155. Epub 2024 Jun 28.

Detection of disease-causing CFTR variants in state newborn screening programs.在州立新生儿筛查计划中检测致病 CFTR 变异体。

Pediatr Pulmonol. 2023 Feb;58(2):465-474. doi: 10.1002/ppul.26209. Epub 2022 Oct 25.

Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling.在一名同胞新生儿筛查呈阳性后，发现了5例漏检的囊性纤维化杂合突变病例。

Respir Med Case Rep. 2022 Jan 1;36:101572. doi: 10.1016/j.rmcr.2021.101572. eCollection 2022.

Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years' experience in Lodz Voivodship.新生儿囊性纤维化筛查对儿科患者临床结局的影响：罗兹省10年经验

Ital J Pediatr. 2021 Apr 9;47(1):87. doi: 10.1186/s13052-021-01040-5.

Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.意大利托斯卡纳地区26年囊性纤维化新生儿筛查中假阴性患者的临床和基因特征

Diagnostics (Basel). 2020 Jul 1;10(7):446. doi: 10.3390/diagnostics10070446.

Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance.新生儿筛查能挽救生命，但无法取代临床警惕的必要性。

Case Rep Pediatr. 2018 Jul 2;2018:7217326. doi: 10.1155/2018/7217326. eCollection 2018.

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.评估净效益时对危害的评估：新生儿筛查疾病审查框架

Matern Child Health J. 2016 Mar;20(3):693-700. doi: 10.1007/s10995-015-1869-9.

New challenges in the diagnosis and management of cystic fibrosis.囊性纤维化诊断与管理中的新挑战。

J Pediatr. 2015 Jun;166(6):1337-41. doi: 10.1016/j.jpeds.2015.03.042.

False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis.一名患有囊性纤维化的早产儿出现新生儿筛查假阴性及新生儿胆汁淤积症。

Eur J Pediatr. 2014 Dec;173(12):1581-3. doi: 10.1007/s00431-013-2135-z. Epub 2013 Aug 15.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验