Congenital disorders of glycosylation
Author:
Publisher
Elsevier
Reference24 articles.
1. Targeted therapy for inherited GPI deficiency;Almeida;N Engl J Med,2007
2. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome;Beltrán-Valero de Bernabé;Am J Hum Genet,2002
3. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin;Carchon;Clin Chem,2004
4. Genetic defects in the human glycome;Freeze;Nat Rev Genet,2006
5. Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders;Grünewald;Early Hum Dev,2007
Cited by 70 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. Improving N-Glycosylation and Biopharmaceutical Production Predictions Using AutoML-Built Residual Hybrid Models;2024-08-28
2. Coagulation abnormalities and vascular complications are common in PGM1-CDG;Molecular Genetics and Metabolism;2024-08
3. Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation;Molecular Genetics and Metabolism Reports;2024-06
4. Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia;Journal of Pediatric Neurology;2024-05-29
5. AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG);Molecular Genetics and Metabolism Reports;2024-03
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