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The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

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 n...

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Autores principales: Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094101/
https://www.ncbi.nlm.nih.gov/pubmed/27830117
http://dx.doi.org/10.1016/j.ymgmr.2016.09.006
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author Opladen, Thomas
Cortès-Saladelafont, Elisenda
Mastrangelo, Mario
Horvath, Gabriella
Pons, Roser
Lopez-Laso, Eduardo
Fernández-Ramos, Joaquín A.
Honzik, Tomas
Pearson, Toni
Friedman, Jennifer
Scholl-Bürgi, Sabine
Wassenberg, Tessa
Jung-Klawitter, Sabine
Kuseyri, Oya
Jeltsch, Kathrin
Kurian, Manju A.
Garcia-Cazorla, Àngels
author_facet Opladen, Thomas
Cortès-Saladelafont, Elisenda
Mastrangelo, Mario
Horvath, Gabriella
Pons, Roser
Lopez-Laso, Eduardo
Fernández-Ramos, Joaquín A.
Honzik, Tomas
Pearson, Toni
Friedman, Jennifer
Scholl-Bürgi, Sabine
Wassenberg, Tessa
Jung-Klawitter, Sabine
Kuseyri, Oya
Jeltsch, Kathrin
Kurian, Manju A.
Garcia-Cazorla, Àngels
author_sort Opladen, Thomas
collection PubMed
description 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.
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spelling pubmed-50941012016-11-09 The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders Opladen, Thomas Cortès-Saladelafont, Elisenda Mastrangelo, Mario Horvath, Gabriella Pons, Roser Lopez-Laso, Eduardo Fernández-Ramos, Joaquín A. Honzik, Tomas Pearson, Toni Friedman, Jennifer Scholl-Bürgi, Sabine Wassenberg, Tessa Jung-Klawitter, Sabine Kuseyri, Oya Jeltsch, Kathrin Kurian, Manju A. Garcia-Cazorla, Àngels Mol Genet Metab Rep Research Paper 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. Elsevier 2016-10-20 /pmc/articles/PMC5094101/ /pubmed/27830117 http://dx.doi.org/10.1016/j.ymgmr.2016.09.006 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
Opladen, Thomas
Cortès-Saladelafont, Elisenda
Mastrangelo, Mario
Horvath, Gabriella
Pons, Roser
Lopez-Laso, Eduardo
Fernández-Ramos, Joaquín A.
Honzik, Tomas
Pearson, Toni
Friedman, Jennifer
Scholl-Bürgi, Sabine
Wassenberg, Tessa
Jung-Klawitter, Sabine
Kuseyri, Oya
Jeltsch, Kathrin
Kurian, Manju A.
Garcia-Cazorla, Àngels
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title_full The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title_fullStr The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title_full_unstemmed The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title_short The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
title_sort international working group on neurotransmitter related disorders (intd): a worldwide research project focused on primary and secondary neurotransmitter disorders
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094101/
https://www.ncbi.nlm.nih.gov/pubmed/27830117
http://dx.doi.org/10.1016/j.ymgmr.2016.09.006
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