Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Author:
Funder
Dietmar Hopp Foundation
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference39 articles.
1. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia;MR Baumgartner;Orphanet J Rare Dis,2014
2. Current status of newborn screening worldwide: 2015;BL Therrell;Semin Perinatol,2015
3. National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary;DJ Dietzen;Clin Chem,2009
4. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result;JG Loeber;J Inherit Metab Dis,2012
5. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation;S Kölker;J Inherit Metab Dis,2015
Cited by 44 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. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia’s newborn screening programme;Clinical Chemistry and Laboratory Medicine (CCLM);2023-10-06
2. Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening;2023-09-15
3. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples;Journal of Inherited Metabolic Disease;2023-09-12
4. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria;Nutrients;2023-07-28
5. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia;Journal of Inherited Metabolic Disease;2023-06-06
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