[1] |
北京医学会罕见病分会, 北京医学会医学遗传学分会, 北京医学会神经病学分会神经肌肉病学组, 等. 脊髓性肌萎缩症多学科管理专家共识[J]. 中华医学杂志, 2019,99(19):1460-1467.
|
[2] |
赵淼, 陆瑛倩, 王柠, 等. 儿童型脊髓性肌萎缩症治疗研究进展[J]. 中国现代神经疾病杂志, 2018,18(4):284-289.
|
[3] |
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy:part 1:recommendations for diagnosis,rehabilitation,orthopedic and nutritional care[J]. Neu-romuscul Disord, 2018,28(2):103-115.
|
[4] |
张琴, 缪红军. 儿童脊髓性肌萎缩症的呼吸道管理[J]. 中华儿科杂志, 2019,57(10):810-812.
|
[5] |
国家卫生健康委员会. 关于公布第一批罕见病目录的通知[EB/OL].( 2018-05-11)[2020-02-22]. http://www.nhc.gov.cn/yzygj/s7-659/201806/393a9a37f39c4b458d6e830f40a4bb99.shtml.
|
[6] |
De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy:interim efficacy and safety results from the Phase 2 NURTURE study[J]. Neuromuscul Disord, 2019,29(11):842-856.
DOI
URL
PMID
|
[7] |
Sansone VA, Racca F, Ottonello G, et al. 1st Italian SMA family association consensus meeting:management and recommendations for respiratory involvement in spinal muscular atrophy(SMA) types I-III,Rome,Italy,30-31 January 2015[J]. Neuro-muscul Disord, 2015,25(12):979-989.
|
[8] |
杨芹. 美国儿童医院人文关怀组织Child Life介绍[J]. 护理学杂志, 2017,32(9):87-89.
|
[9] |
刘碧红, 郑燕, 张雯雯, 等. 1例儿童Prader-Willi综合征伴代谢综合征并发急性胰腺炎患者的护理[J]. 中华护理杂志, 2018,53(S1):103-105.
|
[10] |
王春立, 吴心怡, 王旭梅, 等. 白血病患儿鞘内注射后去枕平卧时间对并发症的影响研究[J]. 中华护理杂志, 2019,54(1):25-30.
|
[11] |
Darras BT, Farrar MA, Mercuri E, et al. An integrated safety analysis of infants and children with symptomatic spinal muscular atrophy(SMA) treated with nusinersen in seven clinical trials[J]. CNS Drugs, 2019,33(9):919-932.
DOI
URL
PMID
|
[12] |
Tsimikas S. RNA-targeted therapeutics for lipid disorders[J]. Curr Opin Lipidol, 2018,29(6):459-466.
DOI
URL
PMID
|