The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
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DOI：
10.1016/j.ymgmr.2016.09.006
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发表时间：
2016-12
影响因子：
1.9
通讯作者：
Garcia-Cazorla, Angels
中科院分区：
文献类型：
--
作者：
Opladen, Thomas;Cortes-Saladelafont, Elisenda;Mastrangelo, Mario;Horvath, Gabriella;Pons, Roser;Lopez-Laso, Eduardo;Fernandez-Ramos, Joaquin A.;Honzik, Tomas;Pearson, Toni;Friedman, Jennifer;Scholl-Buergi, Sabine;Wassenberg, Tessa;Jung-Klawitter, Sabine;Kuseyri, Oya;Jeltsch, Kathrin;Kurian, Manju A.;Garcia-Cazorla, Angels
神经递质是化学信使，使突触间隙中的神经元之间的通信。先天性神经递质生物合成、分解和运输缺陷是一组非常罕见的神经代谢疾病，导致从新生儿到成年的任何年龄段的神经损伤。神经递质相关疾病国际工作组（iNTD）是第一个专注于原发性和继发性神经递质疾病研究的国际网络。它的成立旨在促进这些罕见疾病领域的交流和提高知识。新建立的神经递质相关疾病iNTD患者登记处收集了有关自然病程、诊断方法、治疗策略和受影响患者生活质量的纵向数据。该登记研究为神经递质相关疾病患者共识指南的制定提供了证据基础。iNTD网络和登记册将提高知识和加强先天性神经递质紊乱领域的研究能力。循证指南将促进标准化的诊断程序和治疗方法。
Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.
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影响因子：
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作者：
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