| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8390745 | Molecular Genetics and Metabolism Reports | 2016 | 6 Pages |
Abstract
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.
Keywords
5-MTHFMAOAFOLR1NKHtetrahydrobiopterinBH4TphVMATPSATDAT5-MethyltetrahydrofolateNOSDHPRPAH6-pyruvoyl-tetrahydropterin synthaseAADCdhfrPTPsSuccinic semialdehyde dehydrogenasearomatic l-amino acid decarboxylaseGamma aminobutyric acidDopamine transporterDatabasetyrosine hydroxylaseVesicular monoamine transporterGuidelineDopaminedopamine β-hydroxylaseDihydropteridine reductaseDßHPatient registrySerotoninSerineSepiapterin reductasenetworkSSADHPhosphoserine aminotransferasePhenylalanine hydroxylasemonoamine oxidase Anitric oxide synthasetryptophan hydroxylaseNonketotic hyperglycinemiaNeurotransmitterGABAGlycinefolate receptor alpha
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Authors
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Eduardo Lopez-Laso, JoaquÃn A. Fernández-Ramos, Tomas Honzik, Toni Pearson, Jennifer Friedman, Sabine Scholl-Bürgi, Tessa Wassenberg,