Late onset GM2 gangliosidosis: an α-locus genetic compound with near normal hexosaminidase activity
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1985.tb00188.x/fullpdf
Reference17 articles.
1. AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2;Conzelmann;Proc. Natl. Acad. Sci.,1978
2. Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis;Conzelmann;Eur. J. Biochem.,1978
3. Disc electrophoresis. II. Method and application to human serum proteins;Davis;Ann. NY Acad. Sci.,1964
4. The AB-variant of GM2-gangliosidosis: clinical, biochemical, and pathological studies of two patients;Goldman;Acta Neuropathol.,1980
5. Estimation of the frequency of hexosaminidase A variant alleles in the American Jewish population;Greenberg;Am. J. Hum. Genet.,1982
Cited by 14 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. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese;Clinical Genetics;2008-06-28
2. The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported;Pediatrics;2006-11-01
3. Tay-Sachs Disease Carrier Screening: A Model for Prevention of Genetic Disease;Genetic Testing;1998-01
4. Tay–Sachs Disease Screening and Diagnosis: Evolving Technologies;DNA and Cell Biology;1993-10
5. Cerebellar Disorder in the Hexosaminidase Deficiencies;Foundations of Neurology;1992
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