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德国镰状细胞病新生儿普遍筛查的介绍——简要叙述性综述

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review.

作者信息

Lobitz Stephan, Kunz Joachim B, Cario Holger, Hakimeh Dani, Jarisch Andrea, Kulozik Andreas E, Oevermann Lena, Grosse Regine

机构信息

Gemeinschaftsklinikum Mittelrhein, Pädiatrische Hämatologie und Onkologie, Koblenzer Straße 115-155, 56073 Koblenz, Germany.

Department of Pediatric Oncology, Hematology and Immunology, Hopp-Children's Cancer Center (KiTZ) Heidelberg, University of Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

出版信息

Int J Neonatal Screen. 2021 Jan 28;7(1):7. doi: 10.3390/ijns7010007.

DOI:10.3390/ijns7010007
PMID:33525323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7931038/
Abstract

Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...].

摘要

镰状细胞病（SCD）是一种严重的非恶性血红蛋白疾病，以常染色体隐性方式遗传[……]。

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Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review.德国镰状细胞病新生儿普遍筛查的介绍——简要叙述性综述
Int J Neonatal Screen. 2021 Jan 28;7(1):7. doi: 10.3390/ijns7010007.
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本文引用的文献

1
Editorial for Special Issue "Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies".《镰状细胞病和其他血红蛋白病的新生儿筛查》特刊社论
Int J Neonatal Screen. 2019 Sep 20;5(4):36. doi: 10.3390/ijns5040036. eCollection 2019 Dec.
2
Sickle cell disease in Germany: Results from a national registry.德国镰状细胞病：国家登记处的结果。
Pediatr Blood Cancer. 2020 Apr;67(4):e28130. doi: 10.1002/pbc.28130. Epub 2019 Dec 22.
3
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.欧洲新生儿镰状细胞病筛查：泛欧共识会议的建议。
Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18.
4
[Sickle Cell Disease in Newborns in Germany: Analysis of the AOK Health Insurance Data].[德国新生儿镰状细胞病：AOK健康保险数据分析]
Gesundheitswesen. 2019 Dec;81(12):986-992. doi: 10.1055/a-0719-5165. Epub 2018 Oct 17.
5
Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.串联质谱新生儿筛查证实德国新生儿中镰状细胞病的高发率。
Ann Hematol. 2019 Jan;98(1):47-53. doi: 10.1007/s00277-018-3477-4. Epub 2018 Aug 21.
6
The epidemiology of sickle cell disease in Germany following recent large-scale immigration.近期大规模移民后德国镰状细胞病的流行病学情况。
Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26550. Epub 2017 Apr 6.
7
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.德国西南部镰状细胞病的显著流行：一项出生队列研究结果表明新生儿筛查的必要性。
Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12.
8
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).德国（汉堡大都市地区）镰状细胞病的患病率及其对新生儿筛查的意义。
Pediatr Blood Cancer. 2016 Jan;63(1):168-70. doi: 10.1002/pbc.25706. Epub 2015 Aug 14.
9
Newborn screening for sickle cell disease: technical and legal aspects of a German pilot study with 38,220 participants.镰状细胞病新生儿筛查：一项针对38220名参与者的德国试点研究的技术与法律层面
Biomed Res Int. 2014;2014:695828. doi: 10.1155/2014/695828. Epub 2014 Jul 23.
10
Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany.德国柏林出生的未经过筛选的新生儿队列中镰状细胞病的发病率。
Eur J Hum Genet. 2014 Aug;22(8):1051-3. doi: 10.1038/ejhg.2013.286. Epub 2014 Jan 8.