Cerebral Creatine Deficiency Syndromes: Clinical Aspects, Treatment and Pathophysiology
Author:
Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-1-4020-6486-9_8.pdf
Reference65 articles.
1. Almeida, L.S., Rosenberg, E.H., Verhoeven, N.M., Jakobs, C., and Salomons, G.S., 2006a, Are cerebral creatine deficiency syndromes on the radar screen? Future Neurol. 1: 637–649.
2. Almeida, L.S., Salomons, G.S., Hogenboom, F., Jakobs, C., and Schoffelmeer, A.N., 2006b, Exocytotic release of creatine in rat brain. Synapse 60: 118–123.
3. Almeida, L.S., Verhoeven, N.M., Roos, B., Valongo, C., Cardoso, M.L., Vilarinho, L., Salomons, G.S., and Jakobs, C., 2004, Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol. Genet. Metab. 82: 214–219.
4. Almeida, L.S., Vilarinho, L., Darmin, P.S., Rosenberg, E.H., Martinez-Munoz, C., Jakobs, C., and Salomons, G.S., 2007, A prevalent pathogenic GAMT mutation (c.59G > C) in Portugal. Mol. Genet. Metab. 91: 1–6.
5. Anselm, I.A., Alkuraya, F.S., Salomons, G.S., Jakobs, C., Fulton, A.B., Mazumdar, M., Rivkin, M., Frye, R., Poussaint, T.Y., and Marsden, D., 2006, X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J. Inherit. Metab. Dis. 29: 214–219.
Cited by 130 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. Disorders of organic acid metabolism and epilepsy;Acta Epileptologica;2024-08-20
2. Comparison of urine glycosaminoglycan excretion between children with autism spectrum disorder and typically developed children;Research in Autism Spectrum Disorders;2024-07
3. Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency;Brain Sciences;2024-03-30
4. Creatine in neuroprotection and neurotoxicity;Natural Molecules in Neuroprotection and Neurotoxicity;2024
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