Creatine deficiency syndromes
Author:
Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4615-0247-0_22
Reference36 articles.
1. Bianchi MC, Tosetti M, Fornai F, Alessandri’ MG, Cipriani P, De Vito G, Canapicchi R: Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 47: 511–513, 2000
2. Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans. Am J Hum Genet 69: 1127–1133, 2001
3. Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hanicke W, Frahm J: Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatr Res 36: 409–413, 1994
4. Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, Degrauw TJ: Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? Ann Neurol 49: 401–404, 2001
5. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C: X-Linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 68: 1497–1500, 2001
Cited by 4 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. Quantification of tissue creatine content using capillary electrophoresis;2024-04-10
2. Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT;neurogenetics;2023-01-12
3. Creatine monohydrate for mitochondrial nutrition;Molecular Nutrition and Mitochondria;2023
4. Age-Dependent Decline in Cardiac Function in Guanidinoacetate-N-Methyltransferase Knockout Mice;Frontiers in Physiology;2020-01-21
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