[Rare lung diseases].
[Rare lung diseases].
复制标题
[罕见肺部疾病]。
DOI：
10.1701/1606.17522
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发表时间：
2014
影响因子：
--
通讯作者：
F. Salvati
中科院分区：
文献类型：
--
作者：
G. Paone;S. Toti;F. Salvati
“罕见”病是指在一般人口中影响不到1/2000人的一系列不同疾病或病症。其中150例与呼吸系统有关。迄今为止，文献中的大多数评论都集中在更重要的肺部疾病上，而没有考虑到允许对这些疾病采取正确综合方法的总体框架和诊断和治疗算法。我们回顾的目的是描述一种可能的全球方法来管理这些疾病，试图对该领域的整体复杂性进行描述。我们还想强调罕见病发病机制研究在揭示（至少部分地）许多“更常见”疾病的潜在机制方面所发挥的作用，目的是更新当前的知识状态。
"Rare" diseases are a family of different disorders or conditions affecting fewer than 1/2000 in the general population. Among them, 150 involve respiratory system. To date, most reviews in literature focuses on the more important pulmonary lung diseases without taking in account the overall framework and diagnostic and therapeutic algorithms that allow a correct comprehensive approach to these disorders. The aim of our review is to describe a possible global approach to the management of these diseases trying to take a picture of the overall complexity of the field. We also want to highlight the role played by research on rare diseases pathogenesis in revealing, at least in part, mechanisms underlying many of "more common" disorders with the purpose to update the current state of knowledge.
DOI：
10.1164/rccm.201001-0008oc
发表时间：
2010-07-01
影响因子：
24.7
作者：
Sakagami, Takuro;Beck, David;Trapnell, Bruce C.
通讯作者：
Trapnell, Bruce C.
DOI：
10.1056/nejmoa1213277
发表时间：
2013-08-01
期刊：
The New England journal of medicine
影响因子：
--
作者：
Specks U;Merkel PA;Seo P;Spiera R;Langford CA;Hoffman GS;Kallenberg CG;St Clair EW;Fessler BJ;Ding L;Viviano L;Tchao NK;Phippard DJ;Asare AL;Lim N;Ikle D;Jepson B;Brunetta P;Allen NB;Fervenza FC;Geetha D;Keogh K;Kissin EY;Monach PA;Peikert T;Stegeman C;Ytterberg SR;Mueller M;Sejismundo LP;Mieras K;Stone JH;RAVE-ITN Research Group
通讯作者：
RAVE-ITN Research Group
影响因子：
9.6
作者：
Ratjen, Felix;Saiman, Lisa;Anstead, Michael
通讯作者：
Anstead, Michael