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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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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. |
format | Online Article Text |
id | pubmed-5094101 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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