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Article: 脊髓性肌萎缩症多学科管理专家共识

Title脊髓性肌萎缩症多学科管理专家共识
Authors
Issue Date2019
Publisher中华医学会. The Journal's web site is located at http://www.nmjc.net.cn/
Citation
中华医学杂志, 2019, v. 99 n. 19, p. 1460-1467 How to Cite?
Abstract脊髓性肌萎缩症(spinal muscular atrophy,SMA)是由于脊髓前角及延髓运动神经元变性,导致近端肢体和躯干进行性、对称性肌无力和肌萎缩的神经变性病.尽管SMA可由多种基因突变引起,但一般特指由于运动神经元存活基因1(survival motor neuron,SMN1)突变所导致的常染色体隐性遗传病[1].该病在欧美人群存活新生儿中的发病率约为1/10 000,携带者频率为1/40~1/50[2],位居2岁以下儿童致死性遗传病的首位.
Persistent Identifierhttp://hdl.handle.net/10722/278244
ISSN
2015 SCImago Journal Rankings: 0.134

 

DC FieldValueLanguage
dc.contributor.author曹玲-
dc.contributor.authorChan, HS (陈凯珊)-
dc.contributor.author陈万金-
dc.contributor.author戴毅-
dc.contributor.author葛琳-
dc.contributor.author洪思琦-
dc.contributor.author黄真-
dc.contributor.author李淳德-
dc.contributor.author李海峰-
dc.contributor.author李西华-
dc.contributor.author梁芙蓉-
dc.contributor.author吕俊兰-
dc.contributor.author马祎楠-
dc.contributor.author彭晓音-
dc.contributor.author秦炯-
dc.contributor.author瞿宇晋-
dc.contributor.author阙呈立-
dc.contributor.author沈定国-
dc.contributor.author宋坊-
dc.contributor.author王朝霞-
dc.contributor.author魏翠洁-
dc.contributor.author吴丽文-
dc.contributor.author吴士文-
dc.contributor.author熊晖-
dc.contributor.author许志飞-
dc.contributor.author袁云-
dc.contributor.author张成-
dc.date.accessioned2019-10-04T08:10:16Z-
dc.date.available2019-10-04T08:10:16Z-
dc.date.issued2019-
dc.identifier.citation中华医学杂志, 2019, v. 99 n. 19, p. 1460-1467-
dc.identifier.issn0376-2491-
dc.identifier.urihttp://hdl.handle.net/10722/278244-
dc.description.abstract脊髓性肌萎缩症(spinal muscular atrophy,SMA)是由于脊髓前角及延髓运动神经元变性,导致近端肢体和躯干进行性、对称性肌无力和肌萎缩的神经变性病.尽管SMA可由多种基因突变引起,但一般特指由于运动神经元存活基因1(survival motor neuron,SMN1)突变所导致的常染色体隐性遗传病[1].该病在欧美人群存活新生儿中的发病率约为1/10 000,携带者频率为1/40~1/50[2],位居2岁以下儿童致死性遗传病的首位.-
dc.languagechi-
dc.publisher中华医学会. The Journal's web site is located at http://www.nmjc.net.cn/-
dc.relation.ispartof中华医学杂志 = National Medical Journal of China-
dc.title脊髓性肌萎缩症多学科管理专家共识-
dc.typeArticle-
dc.identifier.emailChan, HS: sophehs@hku.hk-
dc.identifier.authorityChan, HS=rp02210-
dc.identifier.doi10.3760/cma.j.issn.0376-2491.2019.19.006-
dc.identifier.hkuros306722-
dc.identifier.volume99-
dc.identifier.issue19-
dc.identifier.spage1460-
dc.identifier.epage1467-
dc.publisher.placeChina-
dc.customcontrol.immutablecsl 200114-

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