Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease;Ævarsson;Structure Fold Des,2000
2. Fanconi anemia: genetic testing in Ashkenazi Jews;Auerbach;Genet Test,1997
3. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population;Bargal;Hum Mutat,2001
4. Disorders of branched chain amino acid and keto acid metabolism;Chuang,2000
5. Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney;Damuni;Proc Natl Acad Sci USA,1984
Cited by 61 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. Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing;Molecular Genetics and Metabolism;2024-09
2. Lipid Nanoparticle mRNA Therapy Improves Survival and Reduces Serum Branched-Chain Amino Acids in Mouse Models of Maple Syrup Urine Disease;Human Gene Therapy;2024-08-05
3. Prevalence of asymptomatic cytomegalovirus (CMV) infection in newborns in northeast Florida;Frontiers in Epidemiology;2024-01-03
4. Maple Syrup Urine Disease Diagnosis in Brazilian Patients by Massive Parallel Sequencing;2024
5. Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures;Cureus;2023-06-22
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