Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan
Author:
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.1996.tb03495.x/fullpdf
Reference19 articles.
1. Sudden infant death and inherited disorders of fat oxidation;Editorial;Lancet,1986
2. Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels;Stanley;Pediatr. Res.,1983
3. Medium-chain acyl-CoA dehydrogenase deficiency: Clinical course in 120 affected children;Lafolla;J. Pediatr.,1994
4. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine;Rinaldo;N. Engl. J. Med.,1988
Cited by 11 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. Molecular autopsy for sudden death in Japan;Journal of Toxicologic Pathology;2024
2. The Physiological and Pathological Role of Acyl-CoA Oxidation;International Journal of Molecular Sciences;2023-10-03
3. Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil;Reproductive and Developmental Medicine;2022-06
4. Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population;Pediatrics International;2019-06-14
5. Metabolic Autopsy and Molecular Autopsy in Sudden Unexpected Death in Infancy;Forensic Medicine and Human Cell Research;2018-11-04
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