Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects

Published:1997-06 Issue:2 Volume:20 Page:203-213
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

van Gennip A.H.¹²,Abeling N.G.G.M.²,Vreken P.²,van Kuilenburg A.B.P.²

Affiliation:

1. ; Department of Clinical Chemistry; Academic Medical Center, University of Amsterdam; PO Box 2270, 11DE Amsterdam F0-224 The Netherlands

2. ; Departments of Pediatrics and Clinical Chemistry, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005356806329/fullpdf

Reference46 articles.

1. Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn;Adolph;Adv Exp Med Biol,1991

2. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency;Bakkeren;Clin Chim Acta,1984

3. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism;Berger;Clin Chim Acta,1984

4. Dihydropyrimidine dehydrogenase deficiency. Neurological aspects;Braakhekke;J Neurol Sci,1987

5. A new case of dihydropyrimidine dehydrogenase deficiency;Brockstedt;J Inher Metab Dis,1990

Cited by 105 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. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency;Advances in Molecular Pathology;2024-08

2. Germline pharmacogenomics in cancer treatment;Diagnostic Molecular Pathology;2024

3. Increased renal elimination of endogenous and synthetic pyrimidine nucleosides in concentrative nucleoside transporter 1 deficient mice;Nature Communications;2023-06-01

4. Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application;Clinical Chemistry and Laboratory Medicine (CCLM);2023-04-04

5. Plasma β-Alanine is Positively Associated With Risk of Ischemic Stroke: a Nested Case-Control Study;The Journal of Nutrition;2023-04

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