Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations

Published:2016-04-04 Issue:1 Volume:38 Page:91-94
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Couser Natario L.¹²,McClure Julie²,Evans Michael W.³⁴,Haines Nathan R.⁴,Burden Susan K.⁴,Muenzer Joseph²

Affiliation:

1. Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, NC, USA

2. Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina School of Medicine, Chapel Hill, NC, USA

3. Cornerstone Eye Care, High Point, NC, USA

4. Department of Ophthalmology, Wake Forest University School of Medicine, Winston-Salem, NC, USA

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.3109/13816810.2016.1143017

Reference22 articles.

1. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy

2. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

3. Anterior Dislocation of the Lens

4. Atypical Presentation of Ectopia Lentis in Homocystinuria

Cited by 9 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. Hyperhomocysteinemia with spontaneous bilateral ectopia lentis;Indian Journal of Ophthalmology - Case Reports;2024-04

2. Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders;Retina;2024-01-23

3. Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families;Investigative Opthalmology & Visual Science;2024-01-08

4. Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management;Kerala Journal of Ophthalmology;2023

5. Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion;Ophthalmic Genetics;2022-01-02

同舟云学术

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