Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-2-48.pdf
Reference87 articles.
1. Lesch M, Nyhan WL: A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964, 36: 561-570. 10.1016/0002-9343(64)90104-4.
2. Seegmiller JE, Rosenbloom FM, Kelley WN: Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967, 155: 1682-1684. 10.1126/science.155.3770.1682.
3. Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE: A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci USA. 1967, 57: 1735-1739. 10.1073/pnas.57.6.1735.
4. Kelley WN, Greene ML, Rosenbloom FM, Henderson JF, Seegmiller JE: Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med. 1969, 70: 155-206.
5. Catel W, Schmidt J: On familial gouty diathesis associated with cerebral and renal symptoms in a small child. Dtsch Med Wochenschr. 1959, 84: 2145-2147.
Cited by 205 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. From stability to reliability: Unveiling the un-biased reference genes in porcine ovarian granulosa cells under different conditions;Gene;2024-03
2. Selection of reference genes in liproxstatin-1-treated K562 Leukemia cells via RT-qPCR and RNA sequencing;Molecular Biology Reports;2024-01-02
3. A modified nucleoside O6-methyl-2′-deoxyguanosine-5′-triphosphate exhibits anti-glioblastoma activity in a caspase-independent manner;Pharmacological Research;2024-01
4. The Evolving Landscape of Gout in the Female: A Narrative Review;Gout, Urate, and Crystal Deposition Disease;2023-12-30
5. Zebrafish as a model for study of disorders in pyrimidine nucleotide metabolism;Nucleosides, Nucleotides & Nucleic Acids;2023-12-28
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