X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-006-0162-9.pdf
Reference20 articles.
1. Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82:214–219
2. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52:227–231
3. Cecil KM, Salomons GS, Ball WS, Jr., Wong B, Chuck G, Verhoeven NM, Jakobs C, Degrauw TJ (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49:401–404
4. Degrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C (2002) Congenital creatine transporter deficiency. Neuropediatrics 33:232–238
5. Degrauw TJ, Cecil KM, Byars AW, Salomons GS, Ball WS, Jakobs C (2003) The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 244:45–48
Cited by 124 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. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8;Journal of Molecular Biology;2024-01
2. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21
3. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21
4. Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency;eLife;2023-10-13
5. Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency;eLife;2023-10-13
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