Medicine:International Working Group on Neurotransmitter Related Disorders
The International Working Group on Neurotransmitter Related Disorders is an international collaboration of researchers studying neurotransmitter disorders. It has created a patient registry for longitudinal studies.[1] The group studies deficiencies in aromatic amino acid decarboxylase, tyrosine hydroxylase, dopamine beta-hydroxylase, monoamine oxidase A, dopamine transporter, vesicular monoamine transporter 2 GTP cyclohydrolase (Segawa disease), 6-pyruvoyl-tetrahydropterin synthase, dihydropteridine reductase, sepiapterin reductase, folate receptor alpha, dihydrofolate reductase, 3-phosphoglycerate dehydrogenase, 3-phosphoserine phosphatase, phosphoserine aminotransferase, the glycine cleavage system (the deficiency is called glycine encephalopathy or non-ketotic hyperglycinaemia), GABA-transaminase, and succinate-semialdehyde dehydroxylase.[2]
References
- ↑ Opladen, T.; Cortes-Saladelafont, E.; Mastrangelo, M.; Horvath, G.; Pons, R.; Lopez-Laso, E.; Fernandez-Ramos, J. A.; Honzik, T. et al. (2016). "The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders" (in English). Molecular Genetics and Metabolism Reports 9: 61–66. doi:10.1016/j.ymgmr.2016.09.006. PMID 27830117. PMC 5094101. http://www.rechercheisidore.info/search/resource/?uri=10670/1.auw979.
- ↑ "iNTD - International Working Group on Neurotransmitter Related Disorders: About iNTD" (in en). https://intd-registry.org/index.php?id=about.
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