MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference30 articles.
1. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship;Gregersen;Hum Mutat,2001
2. Molecular heterogeneity in very long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death;Mathur;Circulation,1999
3. Acute, severe cardiomyopathy as the main symptom of late-onset very-long-chain acyl-coenzyme A dehydrogenase deficiency;Parini;Eur J Pediatr,1998
4. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children;Bonnet;Circulation,1999
5. Myopathic form of very long-chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl;Fukao;Pediatr Res,2001
Cited by 103 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. Newborn Screening;Avery's Diseases of the Newborn;2024
2. Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience;Molecular Genetics and Metabolism Reports;2023-12
3. Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation;Molecular Genetics and Metabolism;2023-11
4. Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients;BMC Biology;2023-09-04
5. Biochemical and Molecular Characteristics Among Infants with Abnormal Newborn Screen for Very-Long-Chain Acyl-Coa Dehydrogenase Deficiency: A Single Center Experience;2023
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