Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_416
Reference8 articles.
1. Averbeck N, Keppler-Ross S, Dean N (2007) Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit. J Biol Chem 282:29081–29088
2. Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S (2014) X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A 164A:164–169
3. de Ligt J, Willemsen MH, van Bon BW et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929
4. Epi4K and EPGP Investigators (2013) De novo mutations in epileptic encephalopathies. Nature 501:217–221
5. Freeze HH, Chong JX, Bamshad MJ, Ng BG (2014) Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94:161–175
Cited by 26 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. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines;Molecular Genetics and Metabolism;2024-06
2. Early Infantile Epileptic Encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with Ketogenic diet;Journal of the Pakistan Medical Association;2023-06-15
3. The trap of genetic tag: The importance of pathogenicity prediction tools in the correct interpretation of variants of uncertain significance in the era of high‐throughput genome sequencing;Clinical Case Reports;2023-05
4. Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation;American Journal of Medical Genetics Part A;2023-03-17
5. An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase;Frontiers in Cell and Developmental Biology;2022-09-19
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