Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference21 articles.
1. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency;Iacobazzi;Hum Mutat,2004
2. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects;Rubio-Gozalbo;Mol Aspects Med,2004
3. The mitochondrial carnitine/acylcarnitine carrier: function, structure and physiopathology;Indiveri;Mol Aspects Med,2011
4. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature;Vitoria;JIMD Rep,2015
5. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data;Baruteau;J Inherit Metab Dis,2014
Cited by 21 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. Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency;Cardiovascular Pathology;2024-05
2. A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations;Human Mutation;2023-07-25
3. Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity;Translational Pediatrics;2023-05
4. Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report;Journal of International Medical Research;2023-04
5. Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing;International Journal of Neonatal Screening;2023-01-11
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