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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 Date | 2019 |
| 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 Identifier | http://hdl.handle.net/10722/278244 |
| ISSN | 2020 SCImago Journal Rankings: 0.155 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | 曹玲 | - |
| dc.contributor.author | Chan, 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.accessioned | 2019-10-04T08:10:16Z | - |
| dc.date.available | 2019-10-04T08:10:16Z | - |
| dc.date.issued | 2019 | - |
| dc.identifier.citation | 中华医学杂志, 2019, v. 99 n. 19, p. 1460-1467 | - |
| dc.identifier.issn | 0376-2491 | - |
| dc.identifier.uri | http://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.language | chi | - |
| 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.type | Article | - |
| dc.identifier.email | Chan, HS: sophehs@hku.hk | - |
| dc.identifier.authority | Chan, HS=rp02210 | - |
| dc.identifier.doi | 10.3760/cma.j.issn.0376-2491.2019.19.006 | - |
| dc.identifier.hkuros | 306722 | - |
| dc.identifier.volume | 99 | - |
| dc.identifier.issue | 19 | - |
| dc.identifier.spage | 1460 | - |
| dc.identifier.epage | 1467 | - |
| dc.publisher.place | China | - |
| dc.customcontrol.immutable | csl 200114 | - |
| dc.identifier.issnl | 0376-2491 | - |