A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase

Published:2016-03-03 Issue:2 Volume:5 Page:158-162
ISSN:2192-4449
Container-title:CEN Case Reports
language:en
Short-container-title:CEN Case Rep

Author:

Iguchi Akira,Sato Takaaki,Yamazaki Mihoko,Tasaki Kazuyuki,Suzuki Yasushi,Iino Noriaki,Hasegawa Hiroshi,Ichida Kimiyoshi,Narita Ichiei

Publisher

Springer Science and Business Media LLC

Subject

General Earth and Planetary Sciences,General Environmental Science

Link

http://link.springer.com/content/pdf/10.1007/s13730-016-0216-3.pdf

Reference24 articles.

1. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature. 2002;417:447–52.

2. Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, Lai S, Dei M, Orrù M, Albai G, Bandinelli S, Schlessinger D, Lakatta E, Scuteri A, Najjar SS, Guralnik J, Naitza S, Crisponi L, Cao A, Abecasis G, Ferrucci L, Uda M, Chen WM, Nagaraja R. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 2007;3:e194.

3. Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol. 2004;15:164–73.

4. Kojima T, Nishina T, Kitamura M, Hosoya T, Nishioka K. Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. Clin Chim Acta. 1984;137:189–98.

5. Ichida K, Amaya Y, Okamoto K, Nishino T. Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. Int J Mol Sci. 2012;13:15475–95.

Cited by 14 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. Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease;Nephron;2024

2. Natural mutations of human XDH promote the nitrite (NO2−)-reductase capacity of xanthine oxidoreductase: A novel mechanism to promote redox health?;Redox Biology;2023-11

3. Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics;IJU Case Reports;2023-09-28

4. Natural mutations of humanXDHpromote the nitrite (NO₂^-)-reductase capacity of xanthine oxidoreductase: a novel mechanism to promote redox health?;2023-03-24

5. Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase;Biomedicines;2021-11-20

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