• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

[Programs of systematic screening in neonatology. Pharmaco-economic aspects].

作者信息

Schoos R, Verloes A, Bourguignon J P, Koulischer L

机构信息

Département de Biochimie génétique, CHU Sart Tilman, Liège.

出版信息

Rev Med Liege. 1998 May;53(5):311-5.

PMID:9689890
Abstract

Systematic neonatal screening offers many advantages for the patients, its family and the community. The Genetic center of the University Hospital of Liège provides neonatal screening for the following diseases: phenylketonuria, congenital hypothyroidy, cystic fibrosis, alpha-1-antitrypsin, adrenal hyperplasia and biotinidase deficiency. On economical grounds, it is clear that the organisation of neonatal screening costs less to the community than the cost of the disease if diagnosis is made too late as to allow an alleviation, or even a total recovery, of the symptomatology.

摘要

相似文献

1
[Programs of systematic screening in neonatology. Pharmaco-economic aspects].
Rev Med Liege. 1998 May;53(5):311-5.
2
[A cost-benefit evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism].[苯丙酮尿症和先天性甲状腺功能减退症新生儿筛查的成本效益评估]
Zhonghua Yu Fang Yi Xue Za Zhi. 2000 May;34(3):147-9.
3
Newborn screening: the role of the obstetrician.新生儿筛查:产科医生的作用。
Clin Obstet Gynecol. 2002 Sep;45(3):697-710; discussion 730-2. doi: 10.1097/00003081-200209000-00013.
4
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia].[苯丙酮尿症、先天性甲状腺功能减退症和先天性肾上腺皮质增生症的全国筛查]
Acta Med Port. 1992 Mar;5(3):131-4.
5
[Cost/benefit study of the neonatal detection of phenylketonuria and hypothyroidism].[新生儿苯丙酮尿症和甲状腺功能减退症检测的成本效益研究]
Pediatrie. 1988;43(4):345-8.
6
Newborn screening: principles and practice.新生儿筛查:原则与实践
Adv Pediatr. 1996;43:231-70.
7
Recent developments in neonatal screening.新生儿筛查的最新进展
Semin Perinatol. 1985 Apr;9(3):232-49.
8
State screening for metabolic disorders in newborns.新生儿代谢紊乱的国家筛查。
Am Fam Physician. 1988 Apr;37(4):223-8.
9
Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism.苯丙酮尿症和甲状腺功能减退症新生儿筛查程序成本效益比的经济评估。
J Inherit Metab Dis. 1991;14(4):633-9. doi: 10.1007/BF01797933.
10
Screening for metabolic disorders. How are we doing?代谢紊乱筛查。我们做得怎么样?
Pediatr Clin North Am. 1993 Oct;40(5):1073-85. doi: 10.1016/s0031-3955(16)38624-2.

引用本文的文献

1
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.生物素酶缺乏症的实验室诊断,2017 年更新:美国医学遗传学与基因组学学院的技术标准和指南。
Genet Med. 2017 Oct;19(10). doi: 10.1038/gim.2017.84. Epub 2017 Jul 5.
2
Clinical utility gene card for: Biotinidase deficiency-update 2015.生物素酶缺乏症临床应用基因卡 - 2015年更新版
Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18.