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Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe.

作者信息

Scarpa Maurizio, Bonham James R, Dionisi-Vici Carlo, Prevot Johan, Pergent Martine, Meyts Isabelle, Mahlaoui Nizar, Schielen Peter C J I

机构信息

MetabERN, Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy.

Sheffield Children's (NHS) Foundation Trust, Sheffield, UK.

出版信息

Lancet Reg Health Eur. 2022 Jan 28;13:100311. doi: 10.1016/j.lanepe.2022.100311. eCollection 2022 Feb.

DOI:10.1016/j.lanepe.2022.100311
PMID:35199083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8841274/
Abstract
摘要

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本文引用的文献

1
Next-Generation Sequencing in Newborn Screening: A Review of Current State.新生儿筛查中的下一代测序：现状综述
Front Genet. 2021 May 26;12:662254. doi: 10.3389/fgene.2021.662254. eCollection 2021.
2
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.欧洲新生儿筛查再审视：国际新生儿筛查学会对2010年以来现状与发展的观点
Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015.
3
An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.基于基因组的新生儿免疫性遗传病筛查背景下对 Wilson 和 Jungner 标准的评估。
J Allergy Clin Immunol. 2021 Feb;147(2):428-438. doi: 10.1016/j.jaci.2020.12.633.
4
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.非靶向代谢组学和脂质组学时代的先天性代谢缺陷
Metabolites. 2019 Oct 21;9(10):242. doi: 10.3390/metabo9100242.
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Challenges for Worldwide Harmonization of Newborn Screening Programs.全球新生儿筛查计划协调面临的挑战。
Clin Chem. 2016 May;62(5):689-98. doi: 10.1373/clinchem.2015.240903. Epub 2016 Mar 21.
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Revisiting the Wilson-Jungner criteria: How can supplemental criteria guide public health in the era of genetic screening?重新审视威尔逊-荣格纳标准：在基因筛查时代，补充标准如何指导公共卫生？
Genet Med. 2011 Oct 7. doi: 10.1097/GIM.0b013e31823331d0.
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.扩大新生儿生化遗传疾病筛查对儿童结局及父母压力的影响。
JAMA. 2003 Nov 19;290(19):2564-72. doi: 10.1001/jama.290.19.2564.