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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.
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Newborn screening to identify cystic fibrosis.
Nurs Child Young People. 2017 Feb 6;29(1):19. doi: 10.7748/ncyp.29.1.19.s20.
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Uncertain diagnosis after newborn screening for cystic fibrosis: An ethics-based approach to a clinical dilemma.新生儿囊性纤维化筛查后的不确定诊断：临床困境的基于伦理的方法。
Pediatr Pulmonol. 2014 Jan;49(1):1-7. doi: 10.1002/ppul.22933. Epub 2013 Oct 25.
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Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step.英国特伦特地区的新生儿囊性纤维化筛查：两阶段免疫反应性胰蛋白酶筛查与以DNA分析为中间步骤的三阶段方案的比较
J Med Screen. 1997;4(1):23-8. doi: 10.1177/096914139700400109.
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Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group.新生儿筛查后囊性纤维化的诊断：澳大利亚的经验——二十年后及五百万婴儿之后：澳大利亚儿科呼吸小组的共识声明
Pediatr Pulmonol. 2005 May;39(5):440-6. doi: 10.1002/ppul.20191.
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Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre.囊性纤维化患者的长期预后与新生儿筛查早期发现及在囊性纤维化中心接受治疗的关系。
Thorax. 1995 Jul;50(7):712-8. doi: 10.1136/thx.50.7.712.
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Newborn screening and population carrier screening for cystic fibrosis: Two ends of the same rope.
J Cyst Fibros. 2016 Jul;15(4):407-8. doi: 10.1016/j.jcf.2016.05.006. Epub 2016 May 31.
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[Neonatal screening for cystic fibrosis : towards a national implementation in Belgium in 2019].
Rev Med Liege. 2018 Oct;73(10):497-501.
引用本文的文献
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Population newborn screening for inherited metabolic disease: current UK perspectives.英国当前关于遗传性代谢疾病的新生儿群体筛查观点。
J Inherit Metab Dis. 1999 Jun;22(4):572-9. doi: 10.1023/a:1005572710844.
本文引用的文献
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Confidential inquiry into families with two siblings with cystic fibrosis.对有两个患囊性纤维化兄弟姐妹的家庭进行的保密调查。
Arch Dis Child. 1997 Dec;77(6):501-3. doi: 10.1136/adc.77.6.501.
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Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. UK Cystic Fibrosis Survey Management Committee.1968 - 1995年英国囊性纤维化的发病率、人口及生存率。英国囊性纤维化调查管理委员会。
Arch Dis Child. 1997 Dec;77(6):493-6. doi: 10.1136/adc.77.6.493.
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Neonatal screening for cystic fibrosis.新生儿囊性纤维化筛查。
BMJ. 1998 Feb 7;316(7129):404-5. doi: 10.1136/bmj.316.7129.404.
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Neonatal screening for inborn errors of metabolism: cost, yield and outcome.新生儿遗传代谢病筛查：成本、收益与结果
Health Technol Assess. 1997;1(7):i-iv, 1-202.
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Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.囊性纤维化新生儿筛查的营养益处。威斯康星州囊性纤维化新生儿筛查研究组。
N Engl J Med. 1997 Oct 2;337(14):963-9. doi: 10.1056/NEJM199710023371403.
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Screening for cystic fibrosis--time to change our position?
N Engl J Med. 1997 Oct 2;337(14):997-9. doi: 10.1056/NEJM199710023371409.
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11th Annual North American Cystic Fibrosis Conference. Nashville, Tennessee, October 23-26, 1997. Abstracts.
Pediatr Pulmonol Suppl. 1997 Aug;14:71-352.
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Screening in infancy.婴儿期筛查。
Arch Dis Child. 1995 Jan;72(1):93-6. doi: 10.1136/adc.72.1.93.
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