Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0210-6
Reference4 articles.
1. Dupre T, Barnier A, de Lonlay P, et al (2000) Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia. Glycobiology 10: 1277–1281.
2. Lacey JM, Bergen HR, Magera MJ, Naylor S, O’Brien JF (2001) Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem 47: 513–518.
3. Marquardt T, Denecke J (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162: 359–379.
4. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377: 318–320.
Cited by 16 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. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14
2. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!;Clinica Chimica Acta;2021-08
3. Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG);Orphanet Journal of Rare Diseases;2020-09-22
4. Congenital disorders of glycosylation and the challenge of rare diseases;Human Mutation;2019-08-02
5. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation;Pediatric Neurology;2019-05
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