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.; Pearson, T.; Friedman, J.; Scholl-Burgi, S.; Wassenberg, T.; Jung-Klawitter, S.; Kuseyri, O.; Jeltsch, K.; Kurian, M. A.; Garcia-Cazorla, A. (2016). "The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders". Molecular Genetics and Metabolism Reports. 9: 61–66. doi:10.1016/j.ymgmr.2016.09.006. PMC 5094101. PMID 27830117.
^ "iNTD - International Working Group on Neurotransmitter Related Disorders: About iNTD". intd-registry.org.

External links

Official website

This organization-related article is a stub. You can help Wikipedia by expanding it.

Zdroj:https://en.wikipedia.org?pojem=International_Working_Group_on_Neurotransmitter_Related_Disorders
Text je dostupný za podmienok Creative Commons Attribution/Share-Alike License 3.0 Unported; prípadne za ďalších podmienok. Podrobnejšie informácie nájdete na stránke Podmienky použitia.

[1] Opladen, T.; Cortes-Saladelafont, E.; Mastrangelo, M.; Horvath, G.; Pons, R.; Lopez-Laso, E.; Fernandez-Ramos, J. A.; Honzik, T.; Pearson, T.; Friedman, J.; Scholl-Burgi, S.; Wassenberg, T.; Jung-Klawitter, S.; Kuseyri, O.; Jeltsch, K.; Kurian, M. A.; Garcia-Cazorla, A. (2016). "The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders". Molecular Genetics and Metabolism Reports. 9: 61–66. doi:10.1016/j.ymgmr.2016.09.006. PMC 5094101. PMID 27830117.

[2] "iNTD - International Working Group on Neurotransmitter Related Disorders: About iNTD". intd-registry.org.

[1]

[2]