RT Journal Article
T1 The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
A1 Opladen, Thomas
A1 Cortès-Saladelafont, Elisenda
A1 Mastrangelo, Mario
A1 Horvath, Gabriella
A1 Pons, Roser
A1 Lopez-Laso, Eduardo
A1 Fernández-Ramos, Joaquín A
A1 Honzik, Tomas
A1 Pearson, Toni
A1 Friedman, Jennifer
A1 Scholl-Bürgi, Sabine
A1 Wassenberg, Tessa
A1 Jung-Klawitter, Sabine
A1 Kuseyri, Oya
A1 Jeltsch, Kathrin
A1 Kurian, Manju A
A1 Garcia-Cazorla, Àngels
A1 International Working Group on Neurotransmitter related disorders (iNTD), 
K1 3-PGDH, 3-phosphoglycerat dehydrogenase
K1 3-PGH, 3-phosphoglycerat dehydrogenase
K1 3-PSP, 3-phosphoserine phosphatase
K1 5-MTHF, 5-methyltetrahydrofolate
K1 AADC, aromatic l-amino acid decarboxylase
K1 AR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency
K1 BH4, tetrahydrobiopterin
K1 DAT, dopamine transporter
K1 DHFR, dihydrofolate reductase deficiency
K1 DHPR, dihydropteridine reductase
K1 Database
K1 Dopamine
K1 DßH, dopamine β-hydroxylase
K1 FOLR1, folate receptor alpha
K1 GABA
K1 GABA, gamma aminobutyric acid
K1 Glycine
K1 Guideline
K1 MAOA, monoamine oxidase A
K1 NKH, nonketotic hyperglycinemia
K1 NOS, nitric oxide synthase
K1 Network
K1 Neurotransmitter
K1 PAH, phenylalanine hydroxylase
K1 PSAT, phosphoserine aminotransferase
K1 PTPS, 6-pyruvoyl-tetrahydropterin synthase
K1 Patient registry
K1 SR, sepiapterin reductase
K1 SSADH, succinic semialdehyde dehydrogenase
K1 Serine
K1 Serotonin
K1 TH, tyrosine hydroxylase
K1 TPH, tryptophan hydroxylase
K1 VMAT, vesicular monoamine transporter
AB 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.
SN 2214-4269
YR 2016
FD 2016-10-20
LK https://hdl.handle.net/10668/27101
UL https://hdl.handle.net/10668/27101
LA en
DS RISalud
RD Apr 10, 2025