Hearing loss andPRPS1mutations: Wide spectrum of phenotypes and potential therapy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Hearing loss andPRPS1mutations: Wide spectrum of phenotypes and potential therapy

Published:2012-11-28 Issue:1 Volume:52 Page:23-28
ISSN:1499-2027
Container-title:International Journal of Audiology
language:en
Short-container-title:International Journal of Audiology

Author:

Liu Xue Zhong,Xie Dinghua,Yuan Hui Jun,de Brouwer Arjan P. M.,Christodoulou John,Yan Denise

Publisher

Informa UK Limited

Subject

Speech and Hearing,Linguistics and Language,Language and Linguistics

Link

http://www.tandfonline.com/doi/pdf/10.3109/14992027.2012.736032

Reference44 articles.

1. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

2. Effect of lowered intracellular ATP and GTP concentrations on purine ribonucleotide synthesis and interconversion

3. Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate.

4. Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness

5. Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

Cited by 26 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. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review;Molecular Genetics and Metabolism Reports;2023-09

2. S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review;JIMD Reports;2023-09

3. Contribution of Model Organisms to Investigating the Far-Reaching Consequences of PRPP Metabolism on Human Health and Well-Being;Cells;2022-06-13

4. Disorders of purine biosynthesis metabolism;Molecular Genetics and Metabolism;2021-12

5. Molecular biological investigation of temozolomide and KC7F2 combination in U87MG glioma cell line;Gene;2021-04

同舟云学术

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