X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Author:
Affiliation:
1. Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA
2. Neonatal Services Royal Women's Hospital Murdoch Children's Research Institute and University of Melbourne Melbourne VIC Australia
Funder
Johns Hopkins University
Publisher
Wiley
Subject
Developmental Biology,Developmental Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10003
Reference193 articles.
1. Cholesterol homeostasis: A key to prevent or slow down neurodegeneration;Anchisi L.;Frontiers in Physiology,2012
2. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy
3. Cerebral adrenoleukodystrophy: A demyelinating disease that leaves the door wide open;Aubourg P.;Brain,2015
4. A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy
5. Frequent alterations of visual pigment genes in adrenoleukodystrophy;Aubourg P. R.;American Journal of Human Genetics,1988
Cited by 98 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. Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report;Journal of Medical Case Reports;2024-01-21
2. The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature;Cureus;2024-01-18
3. Adrenoleukodystrophy: A Rare Clinical Scenario;Indian Journal of Private Psychiatry;2024-01-03
4. Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy;Radiology Case Reports;2024-01
5. Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders;Biomolecules;2023-11-23
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