Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0079-6/fulltext.html
Reference30 articles.
1. Alexandre C et al (2016) Paradoxical improvement of schizophrenic symptoms by a Dopaminergic agonist: an example of personalized psychiatry in a copy number variation-carrying patient. Biol Psychiatry 80(4):e21–e23. doi: 10.1016/j.biopsych.2015.09.017
2. Arnoux JB et al (2013) Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. J Clin Endocrinol Metab 98(11):4279–4284. doi: 10.1210/jc.2013-2740
3. Atasoy D et al (2007) Deletion of CASK in mice is lethal and impairs synaptic function. Proc Natl Acad Sci U S A 104(7):2525–2530. doi: 10.1073/pnas.0611003104
4. Barth M et al (2012) Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic acid decarboxylase deficiency. JIMD Rep 3:25–32. doi: 10.1007/8904_2011_43
5. Benoist JF, Roze E, Sedel F (2007) Contribution of CSF analysis to the diagnosis of inborn errors of metabolism in adult patients. Rev Neurol 163(10):950–959
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. Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches;Cells;2023-06-28
2. Folate metabolism negatively regulates OAS-mediated antiviral innate immunity via ADAR3/endogenous dsRNA pathway;Metabolism;2023-06
3. Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population;Neuropediatrics;2022-11-28
4. Quantification of monoamine biomarkers in cerebrospinal fluid: Comparison of a UHPLC–MS/MS method with a UHPLC coupled to fluorescence detection method;Biomedical Chromatography;2022-09-20
5. Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report;Frontiers in Neurology;2022-09-01
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