Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Published:2015-01 Issue:1-2 Volume:48 Page:2-7
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Zikanova Marie,Krijt Jakub,Skopova Vaclava,Krijt Matyas,Baresova Veronika,Kmoch Stanislav

Funder

Czech Science Foundation

Charles University in Prague

Ministry of Health of the Czech Republic

BIOCEV — Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference26 articles.

1. Screening of inherited metabolic disorders by tandem mass spectrometry;Chrastina;J Inherit Metab Dis,2007

2. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N Engl J Med,2003

3. Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism;Adam;Clin Chem,1999

4. Diagnostic approach to adenosine deaminase deficiency;Bartl;J Inherit Metab Dis,2007

5. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines;de Bree;Clin Chim Acta,1986

Cited by 8 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. Untargeted metabolomics analyses to identify a new sweet compound released during post-fermentation maceration of wine.;Food Chemistry;2024-12

2. AICAr to SAICAr ratio can serve as additional marker of AICAr use;Drug Testing and Analysis;2022-11

3. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation;PLOS ONE;2019-02-28

4. Mass spectrometric analysis of purine de novo biosynthesis intermediates;PLOS ONE;2018-12-10

5. CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation;Molecular Genetics and Metabolism;2016-11

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