Structural and molecular biology of type I galactosemia: Disease-associated mutations
Author:
Publisher
Wiley
Subject
Cell Biology,Clinical Biochemistry,Genetics,Molecular Biology,Biochemistry
Reference50 articles.
1. Congenital galactosemia, a single enzymatic block in galactose metabolism;Isselbacher;Science,1956
2. Classical galactosaemia revisited;Bosch;J. Inherit. Metab. Dis,2006
3. Long-term outcome in 134 patients with galactosaemia;Schweitzer;Eur. J. Pediatr,1993
4. The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer;Wedekind;Biochemistry,1996
5. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene;Calderon;Hum. Mutat,2007
Cited by 33 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. Classical Hereditary galactosemia: findings in patients and animal models;Metabolic Brain Disease;2023-09-13
2. AAV ‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts;Journal of Inherited Metabolic Disease;2022-01-23
3. Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia;ACS Chemical Biology;2021-03-16
4. Galactosemia: Towards Pharmacological Chaperones;Journal of Personalized Medicine;2021-02-07
5. Microbial Diversity and Nutritional Properties of Persian “Yellow Curd” (Kashk zard), a Promising Functional Fermented Food;Microorganisms;2020-10-26
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