Defective galactosylation of serum transferrin in galactosemia
Author:
Publisher
Oxford University Press (OUP)
Subject
Biochemistry
Link
http://academic.oup.com/glycob/article-pdf/8/4/351/1976236/8-4-351.pdf
Reference30 articles.
1. Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders
2. Purification and characterization of a novel broad-specificity (alpha1 2, alpha1 3 and alpha1 6) mannosidase from rat liver
3. A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity
4. Alpha-Mannosidase-II Deficiency Results in Dyserythropoiesis and Unveils an Alternate Pathway in Oligosaccharide Biosynthesis
5. Galactosaemia: relationship of IQ to biochemical control and genotype
Cited by 115 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. Galactokinase 1 is the source of elevated galactose‐1‐phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia;JIMD Reports;2024-06-23
2. Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology;Molecular Genetics and Metabolism;2024-05
3. Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia;Molecular Therapy - Methods & Clinical Development;2024-03
4. Brain function in classic galactosemia, a galactosemia network (GalNet) members review;Frontiers in Genetics;2024-02-15
5. Galactose epimerase deficiency: lessons from the GalNet registry;Orphanet Journal of Rare Diseases;2022-09-02
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