Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1988.tb03460.x/fullpdf
Reference36 articles.
1. Suppression of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase activity and inhibition of growth of human fibroblasts by 7-ketocholesterol;Brown;J. Biol. Chem.,1974
2. Regulation of 3 hydroxy-3-methyl-glutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with familial hypercholesterolemia;Brown;J. Biol. Chem.,1974
3. Cholesterol ester formation in cultured human fibroblasts. Stimulation by oxygenated sterols;Brown;J. Biol. Chem.,1975
4. Niemann-Pick disease type C. Skin biopsies in parents;Ceuterick;Neuropediatrics,1986
Cited by 124 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. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18
2. A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease;Cells;2023-06-13
3. The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism;Progress in Lipid Research;2023-04
4. A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France;The Journal of Pediatrics;2023-03
5. Lysosomal storage diseases. Sphingolipidoses — sphingomyelin lipidosis, or Niemann–Pick disease, Wolman disease;Pediatrician (St. Petersburg);2022-11-27
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