Niemann-Pick Disease Type C
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-76148-0_6
Reference115 articles.
1. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277(5323):228–31.
2. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000;290(5500):2298–301.
3. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64(4):269–81.
4. Vance JE, Karten B. Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res. 2014;55(8):1609–21.
5. Vanier MT. Complex lipid trafficking in Niemann-Pick disease type C. J Inherit Metab Dis. 2015;38(1):187–99.
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders;Orphanet Journal of Rare Diseases;2023-09-22
2. Peripheral immune system modulates Purkinje cell degeneration in Niemann–Pick disease type C1;Life Science Alliance;2023-06-27
3. Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec;Scientific Reports;2021-05-14
4. Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann–Pick type C case;Neurodegenerative Disease Management;2020-04
5. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect;Orphanet Journal of Rare Diseases;2018-10-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3