Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference23 articles.
1. Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study;Sjögren;Acta Psychiatr Neurol Scand Suppl,1957
2. Sjögren-Larsson syndrome in clinical practice;Fuijkschot;J Inherit Metab Dis,2012
3. Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity;Rizzo;J Clin Invest,1988
4. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene;De Laurenzi;Nat Genet,1996
5. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome;Willemsen;Am J Ophthalmol,2000
Cited by 7 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. Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2024-03
2. Non-vasogenic cystoid maculopathies;Progress in Retinal and Eye Research;2022-11
3. Characterization of West African Crystalline Macular Dystrophy in the Ghanaian Population;Ophthalmology Retina;2022-08
4. Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy;Case Reports in Ophthalmology;2022-05-02
5. Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes;Molecular Genetics and Metabolism;2022-04
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