Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00291560.pdf
Reference17 articles.
1. Dancis J, Hutzler J, Levitz M (1960) Metabolism of the white blood cells in maple syrup urine disease. Biochem Biophys Acta 43: 342?343
2. Dancis J, Hutzler J, Snyderman SE (1972) Enzyme activity in classical and variant forms of maple syrup urine disease. J Pediatr 81: 312?320
3. Development in biochemistry;DJ Danner,1981
4. Elron ML (1965) Amino acidura. N Engl J Med 272:1058?1067. 1107?1113
5. Elsas LJ, Priest JH, Wheeler FB, Danner DJ, Pask BA (1974) Mapie syrup urine disease: Coenzyme function and prenatal monitoring. Metabolism 23:569?579
Cited by 13 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 defects of the branched-chain α-keto acid dehydrogenase complex: Maple syrup urine disease due to mutations of the E1α or E1β subunit gene;Alpha-Keto Acid Dehydrogenase Complexes;1996
2. Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1994-02-22
3. Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1993-11
4. Molecular diagnosis of maple syrup urine disease: Screening and identification of gene mutations in the branched-chain α-ketoacid dehydrogenase multienzyme complex;Journal of Inherited Metabolic Disease;1992-09
5. Maple syrup urine disease: Clinical and biochemical significance of gene analysis;Journal of Inherited Metabolic Disease;1991-09
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