Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference17 articles.
1. Adrenal insufficiency in Smith-Lemli-Opitz syndrome
2. Disorders of cholesterol biosynthesis
3. Clinical phenotype of desmosterolosis
4. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
5. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome
Cited by 99 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. DHCR24-mediated sterol homeostasis during spermatogenesis is required for sperm mitochondrial sheath formation and impacts male fertility over time;2023-12-22
2. Sonic hedgehog signaling in craniofacial development;Differentiation;2023-09
3. High fat diet induces brain injury and neuronal apoptosis via down-regulating 3-β hydroxycholesterol 24 reductase (DHCR24);Cell and Tissue Research;2023-07-17
4. Amiodarone accumulates two cholesterol precursors in myocardium: A controlled clinical study;Journal of Internal Medicine;2023-07-06
5. DHCR24 reverses Alzheimer’s disease-related pathology and cognitive impairment via increasing hippocampal cholesterol levels in 5xFAD mice;Acta Neuropathologica Communications;2023-06-21
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