Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia
Author:
Affiliation:
1. Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA
2. Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA
Funder
Foundation Fighting Blindness
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1121500
Reference47 articles.
1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
2. B12 Trafficking in Mammals: A Case for Coenzyme Escort Service
3. The tinker, tailor, soldier in intracellular B12 trafficking
4. Decyanation of vitamin B12 by a trafficking chaperone
Cited by 12 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. A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism;Clinical Epigenetics;2023-10-05
2. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07
3. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia;Journal of Inherited Metabolic Disease;2022-06-23
4. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review;Human Genetics;2021-10-15
5. Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-10
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