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

dc.contributor.authorOpladen, Thomas
dc.contributor.authorCortès-Saladelafont, Elisenda
dc.contributor.authorMastrangelo, Mario
dc.contributor.authorHorvath, Gabriella
dc.contributor.authorPons, Roser
dc.contributor.authorLopez-Laso, Eduardo
dc.contributor.authorFernández-Ramos, Joaquín A
dc.contributor.authorHonzik, Tomas
dc.contributor.authorPearson, Toni
dc.contributor.authorFriedman, Jennifer
dc.contributor.authorScholl-Bürgi, Sabine
dc.contributor.authorWassenberg, Tessa
dc.contributor.authorJung-Klawitter, Sabine
dc.contributor.authorKuseyri, Oya
dc.contributor.authorJeltsch, Kathrin
dc.contributor.authorKurian, Manju A
dc.contributor.authorGarcia-Cazorla, Àngels
dc.contributor.authorInternational Working Group on Neurotransmitter related disorders (iNTD)
dc.date.accessioned2025-01-07T15:23:35Z
dc.date.available2025-01-07T15:23:35Z
dc.date.issued2016-10-20
dc.description.abstractNeurotransmitters 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.
dc.identifier.doi10.1016/j.ymgmr.2016.09.006
dc.identifier.issn2214-4269
dc.identifier.pmcPMC5094101
dc.identifier.pmid27830117
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC5094101/pdf
dc.identifier.unpaywallURLhttps://doi.org/10.1016/j.ymgmr.2016.09.006
dc.identifier.urihttps://hdl.handle.net/10668/27101
dc.journal.titleMolecular genetics and metabolism reports
dc.journal.titleabbreviationMol Genet Metab Rep
dc.language.isoen
dc.organizationSAS - Hospital Universitario Virgen de la Victoria
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.page.number61-66
dc.pubmedtypeJournal Article
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject3-PGDH, 3-phosphoglycerat dehydrogenase
dc.subject3-PGH, 3-phosphoglycerat dehydrogenase
dc.subject3-PSP, 3-phosphoserine phosphatase
dc.subject5-MTHF, 5-methyltetrahydrofolate
dc.subjectAADC, aromatic l-amino acid decarboxylase
dc.subjectAR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency
dc.subjectBH4, tetrahydrobiopterin
dc.subjectDAT, dopamine transporter
dc.subjectDHFR, dihydrofolate reductase deficiency
dc.subjectDHPR, dihydropteridine reductase
dc.subjectDatabase
dc.subjectDopamine
dc.subjectDßH, dopamine β-hydroxylase
dc.subjectFOLR1, folate receptor alpha
dc.subjectGABA
dc.subjectGABA, gamma aminobutyric acid
dc.subjectGlycine
dc.subjectGuideline
dc.subjectMAOA, monoamine oxidase A
dc.subjectNKH, nonketotic hyperglycinemia
dc.subjectNOS, nitric oxide synthase
dc.subjectNetwork
dc.subjectNeurotransmitter
dc.subjectPAH, phenylalanine hydroxylase
dc.subjectPSAT, phosphoserine aminotransferase
dc.subjectPTPS, 6-pyruvoyl-tetrahydropterin synthase
dc.subjectPatient registry
dc.subjectSR, sepiapterin reductase
dc.subjectSSADH, succinic semialdehyde dehydrogenase
dc.subjectSerine
dc.subjectSerotonin
dc.subjectTH, tyrosine hydroxylase
dc.subjectTPH, tryptophan hydroxylase
dc.subjectVMAT, vesicular monoamine transporter
dc.titleThe International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number9

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