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Improving the health of patients with cystic fibrosis through newborn screening. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

作者信息

Farrell P M

机构信息

University of Wisconsin-Madison Medical School, USA.

出版信息

Adv Pediatr. 2000;47:79-115.

PMID:10959441
Abstract
摘要

相似文献

1
Improving the health of patients with cystic fibrosis through newborn screening. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.通过新生儿筛查改善囊性纤维化患者的健康状况。威斯康星州囊性纤维化新生儿筛查研究小组。
Adv Pediatr. 2000;47:79-115.
2
Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough!通过新生儿筛查早期诊断囊性纤维化可改善预后的证据：够了！
J Pediatr. 2005 Sep;147(3 Suppl):S30-6. doi: 10.1016/j.jpeds.2005.08.012.
3
The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data.通过新生儿筛查诊断出的囊性纤维化患者的生存优势：来自美国囊性纤维化基金会登记数据的证据。
J Pediatr. 2005 Sep;147(3 Suppl):S57-63. doi: 10.1016/j.jpeds.2005.08.014.
4
Newborn screening for cystic fibrosis: an opportunity to improve care and outcomes.新生儿囊性纤维化筛查：改善护理与预后的契机。
J Pediatr. 2005 Sep;147(3 Suppl):S2-5. doi: 10.1016/j.jpeds.2005.08.016.
5
Neonatal screening for cystic fibrosis does not affect time to first infection with Pseudomonas aeruginosa.新生儿囊性纤维化筛查不影响首次感染铜绿假单胞菌的时间。
Pediatrics. 2006 Sep;118(3):888-95. doi: 10.1542/peds.2004-2599.
6
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.囊性纤维化新生儿筛查项目实施指南：囊性纤维化基金会研讨会报告
Pediatrics. 2007 Feb;119(2):e495-518. doi: 10.1542/peds.2006-1993.
7
Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program.新生儿筛查项目诊断囊性纤维化的成本分析。
J Pediatr. 2003 Jun;142(6):617-23. doi: 10.1067/mpd.2003.209.
8
Preventing early, prolonged vitamin E deficiency: an opportunity for better cognitive outcomes via early diagnosis through neonatal screening.预防早期、长期维生素E缺乏：通过新生儿筛查进行早期诊断以获得更好认知结果的契机。
J Pediatr. 2005 Sep;147(3 Suppl):S51-6. doi: 10.1016/j.jpeds.2005.08.003.
9
[Diagnosis and neonatal screening of cystic fibrosis].[囊性纤维化的诊断与新生儿筛查]
Rev Prat. 2003 Jan 15;53(2):135-40.
10
[Neonatal screening for cystic fibrosis].[新生儿囊性纤维化筛查]
Soins Pediatr Pueric. 2004 Jun(218):21-2.

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Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis.单纯新生儿筛查不足以改善囊性纤维化的肺部结局。
J Cyst Fibros. 2021 May;20(3):492-498. doi: 10.1016/j.jcf.2020.06.002. Epub 2020 Jun 13.
2
The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.CFTR 基因发现对囊性纤维化的诊断、咨询和预防治疗的影响。
Genes (Basel). 2020 Apr 8;11(4):401. doi: 10.3390/genes11040401.
3
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
对囊性纤维化患者的表型和结局进行全基因组测序的应用。
Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1). doi: 10.1101/mcs.a004531. Print 2020 Feb.
4
Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population.在一个多民族人群中，对囊性纤维化患者的 CFTR 基因中新型大片段缺失和其他拷贝数变异的鉴定。
Mol Genet Genomic Med. 2019 Jul;7(7):e00645. doi: 10.1002/mgg3.645. Epub 2019 Jun 14.
5
Quantitative chest computerized tomography and FEV equally identify pulmonary exacerbation risk in children with cystic fibrosis.定量胸部计算机断层扫描和 FEV 同样可以识别囊性纤维化儿童的肺部恶化风险。
Pediatr Pulmonol. 2018 Oct;53(10):1369-1377. doi: 10.1002/ppul.24144. Epub 2018 Aug 29.
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Profiling of Bacterial and Fungal Microbial Communities in Cystic Fibrosis Sputum Using RNA.使用 RNA 对囊性纤维化痰液中的细菌和真菌微生物群落进行分析。
mSphere. 2018 Aug 8;3(4):e00292-18. doi: 10.1128/mSphere.00292-18.
7
Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis.早期生长模式持续 12 年，并影响囊性纤维化的肺部结局。
J Cyst Fibros. 2018 Jul;17(4):528-535. doi: 10.1016/j.jcf.2018.01.006. Epub 2018 Feb 1.
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Innovative assessment of inpatient and pulmonary drug costs for children with cystic fibrosis.对囊性纤维化患儿住院和肺部用药费用的创新评估。
Pediatr Pulmonol. 2016 Dec;51(12):1295-1303. doi: 10.1002/ppul.23554. Epub 2016 Oct 14.
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Refining the continuum of CFTR-associated disorders in the era of newborn screening.在新生儿筛查时代完善与囊性纤维化跨膜传导调节因子（CFTR）相关疾病的连续谱。
Clin Genet. 2016 May;89(5):539-49. doi: 10.1111/cge.12711. Epub 2016 Jan 20.
10
Risk factors for the progression of cystic fibrosis lung disease throughout childhood.儿童期囊性纤维化肺病进展的危险因素。
Ann Am Thorac Soc. 2014 Jan;11(1):63-72. doi: 10.1513/AnnalsATS.201309-303OC.