Newborn screening: from Guthrie to whole genome sequencing.
作者信息
Caggana Michele, Jones Elizabeth A, Shahied S I, Tanksley Susan, Hermerath Cheryl A, Lubin Ira M
机构信息
New York State Department of Health, Albany, NY.
出版信息
Public Health Rep. 2013 Sep-Oct;128 Suppl 2(Suppl 2):14-9. doi: 10.1177/00333549131280S204.
Abstract
摘要
相似文献
1
Newborn screening: from Guthrie to whole genome sequencing.新生儿筛查：从古思里试验到全基因组测序。
Public Health Rep. 2013 Sep-Oct;128 Suppl 2(Suppl 2):14-9. doi: 10.1177/00333549131280S204.
2
[Fifty years of neonatal screening for congenital diseases in Spain].[西班牙五十年先天性疾病新生儿筛查]
An Pediatr (Engl Ed). 2019 Apr;90(4):205-206. doi: 10.1016/j.anpedi.2018.11.013. Epub 2018 Dec 21.
3
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.新生儿筛查：下一代测序时代的历史回顾、近期进展与未来展望
Curr Opin Pediatr. 2016 Dec;28(6):694-699. doi: 10.1097/MOP.0000000000000414.
4
Neonatal screening: from the 'Guthrie age' to the 'genetic age'.新生儿筛查：从“格思里时代”到“基因时代”。
J Inherit Metab Dis. 2007 Aug;30(4):418-22. doi: 10.1007/s10545-007-0624-9. Epub 2007 May 12.
5
Newborn bloodspot screening in the UK--past, present and future.英国新生儿血斑筛查——过去、现在与未来。
Ann Clin Biochem. 2008 Jan;45(Pt 1):11-7. doi: 10.1258/acb.2007.007127.
6
[State of play of neonatal screening in France].[法国新生儿筛查的现状]
Med Sci (Paris). 2018 May;34 Hors série n°1:19-21. doi: 10.1051/medsci/201834s110. Epub 2018 Jun 18.
7
Fifty years of newborn screening.新生儿筛查五十年。
J Paediatr Child Health. 2015 Jan;51(1):103-7. doi: 10.1111/jpc.12817.
8
The political history of PKU: reflections on 50 years of newborn screening.苯丙酮尿症的政治史：对50年新生儿筛查的反思
Pediatrics. 2013 Dec;132(6):987-9. doi: 10.1542/peds.2013-1441. Epub 2013 Nov 25.
9
Whole-genome sequencing in newborn screening programs.新生儿筛查计划中的全基因组测序。
Sci Transl Med. 2014 Mar 26;6(229):229cm2. doi: 10.1126/scitranslmed.3008494.
10
A new day for Duchenne's?: The time has come for newborn screening.
Mol Genet Metab. 2014 Sep-Oct;113(1-2):11-3. doi: 10.1016/j.ymgme.2014.06.001. Epub 2014 Jun 14.
引用本文的文献
1
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.推进华盛顿州的新生儿筛查：一种用于威尔逊病和先天性免疫缺陷的新型多重液相色谱-串联质谱蛋白质组学检测方法。
Int J Neonatal Screen. 2025 Jan 10;11(1):6. doi: 10.3390/ijns11010006.
2
The "Other E" in ELSI: The Use of Economic Evaluation to Inform the Expansion of Newborn Screening.ELSI中的“另一个E”：利用经济评估为新生儿筛查的扩展提供信息。
Arch Pediatr (Lisle). 2024;9(1). doi: 10.29011/2575-825x.100307. Epub 2024 Mar 25.
3
International Newborn Screening: Where Are We in Saudi Arabia?国际新生儿筛查：沙特阿拉伯处于什么阶段？
J Epidemiol Glob Health. 2024 Sep;14(3):638-644. doi: 10.1007/s44197-024-00263-z. Epub 2024 Jun 26.
4
Population-based screening of newborns: Findings from the newborn screening expansion study (part two).基于人群的新生儿筛查：新生儿筛查扩展研究的结果（第二部分）
Front Genet. 2022 Sep 1;13:867354. doi: 10.3389/fgene.2022.867354. eCollection 2022.
5
Epidemiology of Mucopolysaccharidoses Update.黏多糖贮积症流行病学最新进展
Diagnostics (Basel). 2021 Feb 10;11(2):273. doi: 10.3390/diagnostics11020273.
6
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.简报：自闭症和其他神经发育障碍儿童可治疗的先天性代谢缺陷的延迟诊断。
J Autism Dev Disord. 2021 Jun;51(6):2124-2131. doi: 10.1007/s10803-020-04682-2.
7
Dried Blood Spot in Laboratory: Directions and Prospects.实验室中的干血斑：方向与前景
Diagnostics (Basel). 2020 Apr 23;10(4):248. doi: 10.3390/diagnostics10040248.
8
Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.简单测试，复杂系统：新生儿筛查科学、技术与政策的多面视角
Glob Pediatr Health. 2019 Dec 20;6:2333794X19894812. doi: 10.1177/2333794X19894812. eCollection 2019.
9
Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.运用决策分析支持新生儿筛查政策决策：庞贝病案例研究
MDM Policy Pract. 2018 Jan-Jun;3(1). doi: 10.1177/2381468318763814. Epub 2018 Apr 18.
10
Genomic newborn screening: public health policy considerations and recommendations.基因组新生儿筛查：公共卫生政策考量与建议
BMC Med Genomics. 2017 Feb 21;10(1):9. doi: 10.1186/s12920-017-0247-4.
本文引用的文献
1
Newborn dried blood spot screening: residual specimen storage issues.新生儿干血斑筛查：剩余标本储存问题。
Pediatrics. 2012 Feb;129(2):365-6. doi: 10.1542/peds.2011-3416. Epub 2012 Jan 16.
2
Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.委员会报告：关于新生儿筛查后保留和使用干血斑剩余标本的国家指导意见的考虑和建议。
Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639.
3
Ten great public health achievements--United States, 2001-2010.十个重大公共卫生成就——美国，2001-2010 年。
MMWR Morb Mortal Wkly Rep. 2011 May 20;60(19):619-23.
4
State laws regarding the retention and use of residual newborn screening blood samples.州法律对保留和使用新生儿筛查剩余血样的规定。
Pediatrics. 2011 Apr;127(4):703-12. doi: 10.1542/peds.2010-1468. Epub 2011 Mar 28.
5
Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program.在威斯康星州的新生儿筛查计划中实施常规严重联合免疫缺陷检测。
Public Health Rep. 2010 May-Jun;125 Suppl 2(Suppl 2):88-95. doi: 10.1177/00333549101250S211.
6
Digital microfluidics: a future technology in the newborn screening laboratory?数字微流控技术：新生儿筛查实验室的未来技术？
Semin Perinatol. 2010 Apr;34(2):163-9. doi: 10.1053/j.semperi.2009.12.008.
7
An evidence development process for newborn screening.新生儿筛查的证据开发过程。
Genet Med. 2010 Mar;12(3):131-4. doi: 10.1097/GIM.0b013e3181d28eb1.
8
Statewide newborn screening for severe T-cell lymphopenia.全州范围内新生儿严重 T 细胞淋巴细胞减少症筛查。
JAMA. 2009 Dec 9;302(22):2465-70. doi: 10.1001/jama.2009.1806.
9
Development of a routine newborn screening protocol for severe combined immunodeficiency.严重联合免疫缺陷常规新生儿筛查方案的制定。
J Allergy Clin Immunol. 2009 Sep;124(3):522-7. doi: 10.1016/j.jaci.2009.04.007. Epub 2009 May 31.
10
Newborn screening in North America.北美地区的新生儿筛查。
J Inherit Metab Dis. 2007 Aug;30(4):447-65. doi: 10.1007/s10545-007-0690-z. Epub 2007 Jul 23.
Zotero 插件