TY  - JOUR
AU  - Opladen, Thomas
AU  - Cortès-Saladelafont, Elisenda
AU  - Mastrangelo, Mario
AU  - Horvath, Gabriella
AU  - Pons, Roser
AU  - Lopez-Laso, Eduardo
AU  - Fernández-Ramos, Joaquín A
AU  - Honzik, Tomas
AU  - Pearson, Toni
AU  - Friedman, Jennifer
AU  - Scholl-Bürgi, Sabine
AU  - Wassenberg, Tessa
AU  - Jung-Klawitter, Sabine
AU  - Kuseyri, Oya
AU  - Jeltsch, Kathrin
AU  - Kurian, Manju A
AU  - Garcia-Cazorla, Àngels
AU  - International Working Group on Neurotransmitter related disorders (iNTD)
PY  - 2016
DO  - 10.1016/j.ymgmr.2016.09.006
SN  - 2214-4269
UR  - https://hdl.handle.net/10668/27101
T2  - Molecular genetics and metabolism reports
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...
LA  - en
KW  - 3-PGDH, 3-phosphoglycerat dehydrogenase
KW  - 3-PGH, 3-phosphoglycerat dehydrogenase
KW  - 3-PSP, 3-phosphoserine phosphatase
KW  - 5-MTHF, 5-methyltetrahydrofolate
KW  - AADC, aromatic l-amino acid decarboxylase
KW  - AR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency
KW  - BH4, tetrahydrobiopterin
KW  - DAT, dopamine transporter
KW  - DHFR, dihydrofolate reductase deficiency
KW  - DHPR, dihydropteridine reductase
KW  - Database
KW  - Dopamine
KW  - DßH, dopamine β-hydroxylase
KW  - FOLR1, folate receptor alpha
KW  - GABA
KW  - GABA, gamma aminobutyric acid
KW  - Glycine
KW  - Guideline
KW  - MAOA, monoamine oxidase A
KW  - NKH, nonketotic hyperglycinemia
KW  - NOS, nitric oxide synthase
KW  - Network
KW  - Neurotransmitter
KW  - PAH, phenylalanine hydroxylase
KW  - PSAT, phosphoserine aminotransferase
KW  - PTPS, 6-pyruvoyl-tetrahydropterin synthase
KW  - Patient registry
KW  - SR, sepiapterin reductase
KW  - SSADH, succinic semialdehyde dehydrogenase
KW  - Serine
KW  - Serotonin
KW  - TH, tyrosine hydroxylase
KW  - TPH, tryptophan hydroxylase
KW  - VMAT, vesicular monoamine transporter
TI  - The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
TY  - research article
VL  - 9
ER  -