Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1108-x
Reference10 articles.
1. Aebi M, Hennet T (2001) Congenital disorders of glycosylation: genetic model systems lead the way. Trends Cell Biol 11: 136–141. doi: 10.1016/S0962-8924(01)01925-0 .
2. Arnoux JB, Boddaert N, Valayannopoulos V, et al (2008) Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 93: 444–449.
3. Clayton P, Winchester B, Di Tomaso E, et al (1993) Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341: 956. doi: 10.1016/0140-6736(93)91244-G .
4. Frank CG, Sanyal S, Rush JS, et al (2008) Does Rft1 flip an N-glycan lipid precursor? Nature 454: E3–4; discussion E4–5. doi: 10.1038/nature07165 .
5. Haeuptle MA, Pujol FM, Neupert C, et al (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet 82: 600–606. doi: 10.1016/j.ajhg.2007.12.021 .
Cited by 14 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. Congenital Disorders of Glycosylation from a Neurological Perspective;Brain Sciences;2021-01-11
2. Congenital disorders of N-linked glycosylation;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
3. A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation;European Journal of Medical Genetics;2019-04
4. RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants;JIMD Reports;2018
5. Epileptic spasms in congenital disorders of glycosylation;Epileptic Disorders;2017-03
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