An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia
Author:
Publisher
Elsevier BV
Subject
Health Informatics,Computer Science Applications
Reference63 articles.
1. Congenital galactosemia, a single enzymatic block in galactose metabolism;Isselbacher;Science,1956
2. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment;Coss;J. Inherit. Metab. Dis.,2013
3. Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany;Mathias;Eur. J. Pediatr.,1986
4. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers;Murphy;Eur. J. Hum. Genet.,1999
5. Galactosemia screening of newborns in Massachusetts;Shih;N. Engl. J. Med.,1971
Cited by 21 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. Premature ovarian insufficiency in patients with galactosemia;Pediatric pharmacology;2024-05-11
2. Computational screening and structural analysis of Gly201Arg and Gly201Asp missense mutations in human cyclin-dependent kinase 4 protein;Control of Cell Cycle & Cell Proliferation;2023
3. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02
4. In silico analyses of acetylcholinesterase (AChE) and its genetic variants in interaction with the anti‐Alzheimer drug Rivastigmine;Journal of Cellular Biochemistry;2022-05-29
5. Molecular Dynamics Simulation and Essential Dynamics of Deleterious Proline 12 Alanine Single-Nucleotide Polymorphism in PPARγ2 Associated with Type 2 Diabetes, Cardiovascular Disease, and Nonalcoholic Fatty Liver Disease;PPAR Research;2022-05-02
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