Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-013-9671-6
Reference26 articles.
1. Amigo J, Salas A, Phillips C (2011) ENGINES: exploring single nucleotide variation in entire human genomes. BMC Bioinforma 12:105
2. Barrett JC, Fry B, Maller J et al (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265
3. Burr ML, Roos JC, Ostör AJ (2008) Metabolic myopathies: a guide and update for clinicians. Curr Opin Rheumatol 20:639–647
4. Er TK, Liang WC, Chang JG et al (2010) High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Clin Chim Acta 411:690–699
5. Er TK, Chen CC, Liu YY et al (2011) Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif. BMC Struct Biol 11:43
Cited by 75 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. High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study;Journal of Inherited Metabolic Disease;2024-09-03
2. Multiple Acyl‐Coenzyme A Dehydrogenase Deficiency Is Associated with Sertraline Use – Is There an Acquired Form?;Annals of Neurology;2024-08-02
3. Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia;Molecular Genetics and Metabolism;2024-08
4. Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II;Children;2024-02-26
5. The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis;Orphanet Journal of Rare Diseases;2024-02-16
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