Opladen, T;
Cortès-Saladelafont, E;
Mastrangelo, M;
Horvath, G;
Pons, R;
Lopez-Laso, E;
Fernández-Ramos, JA;
... Garcia-Cazorla, À; + view all
(2016)
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Molecular Genetics and Metabolism Reports
, 9
pp. 61-66.
10.1016/j.ymgmr.2016.09.006.
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Abstract
Introduction: 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. / Methods and results: 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. / Conclusion: 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.
| Type: | Article |
|---|---|
| Title: | The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.ymgmr.2016.09.006 |
| Publisher version: | http://dx.doi.org/10.1016/j.ymgmr.2016.09.006 |
| Language: | English |
| Additional information: | Copyright © 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| Keywords: | Neurotransmitter; Network; Database; Dopamine; Serotonin; Glycine; GABA; Serine; Guideline; Patient registry |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1527478 |
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