Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference132 articles.
1. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols;Abuelo;Am J Med Genet,1995
2. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism;Anderson;Am J Med Genet,1998
3. Photomedicine: Lessons from the Smith-Lemli-Opitz syndrome;Anstey;J Photochem Photobiol B,2001
4. Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome;Atchaneeyasakul;Am J Med Genet,1998
5. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome;Battaile;Mol Genet Metab,2001
Cited by 139 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. Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome;American Journal of Medical Genetics Part A;2024-09-13
2. Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome;Molecular Genetics and Metabolism;2024-09
3. DHCR7 links cholesterol synthesis with neuronal development and axonal integrity;Biochemical and Biophysical Research Communications;2024-06
4. 7-Dehydrocholesterol: A sterol shield against an iron sword;Molecular Cell;2024-04
5. Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis;Nature Communications;2024-03-12
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