Eidikology: proposition for a new terminology for the science of rare diseases.
作者信息
Ramos-Zaldívar Héctor Miguel
机构信息
GIMUNICAH, Faculty of Medicine, Universidad Catolica de Honduras, San Pedro Sula, Honduras
Doctoral Program in Medical Sciences, Faculty of Medicine, Pontificia Universidad Catolica de Chile, Santiago de Chile, Chile.
出版信息
Postgrad Med J. 2019 Jul;95(1125):406. doi: 10.1136/postgradmedj-2019-136590. Epub 2019 Apr 25.
Abstract
摘要
相似文献
1
Eidikology: proposition for a new terminology for the science of rare diseases.
Postgrad Med J. 2019 Jul;95(1125):406. doi: 10.1136/postgradmedj-2019-136590. Epub 2019 Apr 25.
2
Neglected diseases: progress in drug development.
Curr Opin Investig Drugs. 2007 Feb;8(2):103-4.
3
New clinical classification of rare cardiovascular diseases and disorders: relevance for cardiovascular research.
Cardiovasc Res. 2019 Jul 1;115(8):e77-e79. doi: 10.1093/cvr/cvz142.
4
Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.罕见病术语与定义——一项全球性系统综述：药物经济学与结果研究国际协会（ISPOR）罕见病特别兴趣小组报告
Value Health. 2015 Sep;18(6):906-14. doi: 10.1016/j.jval.2015.05.008. Epub 2015 Aug 18.
5
Naming and understanding rare diseases: International Classification of Diseases coding and the epidemiologic designations of idiopathic pulmonary arterial hypertension.罕见病的命名与理解：国际疾病分类编码及特发性肺动脉高压的流行病学命名
Chest. 2011 Mar;139(3):482-483. doi: 10.1378/chest.10-2167.
6
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].[基因突变数据库：罕见遗传病的风险与前景]
Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1.
7
[Inaugural conference - what stakes face rare diseases in the French health care system].[首届会议——法国医疗体系中罕见病面临何种风险]
Med Sci (Paris). 2014 Apr;30 Spe(1):5-7. doi: 10.1051/medsci/201430s102. Epub 2014 Apr 14.
8
[Orphan drugs. Drugs for treatment of rare diseases].[孤儿药。用于治疗罕见病的药物]
Med Monatsschr Pharm. 2004 Aug;27(8):256-9.
9
Global View on Rare Diseases: A Mini Review.罕见病的全球视野：一篇综述短文
Curr Med Chem. 2017;24(29):3153-3158. doi: 10.2174/0929867324666170511111803.
10
A proposed definition of rare diseases for China: from the perspective of return on investment in new orphan drugs.中国罕见病的拟议定义：从新型孤儿药投资回报的角度来看
Orphanet J Rare Dis. 2015 Mar 7;10:28. doi: 10.1186/s13023-015-0241-x.
引用本文的文献
1
Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report.多组织细胞遗传学分析用于诊断嵌合型唐氏综合征：一例报告
Clin Case Rep. 2022 Apr 8;10(4):e05604. doi: 10.1002/ccr3.5604. eCollection 2022 Apr.
本文引用的文献
1
Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany.绘制罕见病医疗保健图谱：以德国大疱性表皮松解症为例。
Orphanet J Rare Dis. 2018 Nov 8;13(1):197. doi: 10.1186/s13023-018-0944-x. Print 2018 Oct 26.
2
Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches.利用电子病历和生物医学文献，通过数据融合和协同过滤方法辅助罕见病诊断
JMIR Med Inform. 2018 Oct 10;6(4):e11301. doi: 10.2196/11301.
3
Applying complement therapeutics to rare diseases.将补体疗法应用于罕见病。
Clin Immunol. 2015 Dec;161(2):225-40. doi: 10.1016/j.clim.2015.08.009. Epub 2015 Sep 1.
Zotero 插件