Article
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Genes - 19 Jan 2023
Mastrangelo Mario, Tolve Manuela, Artiola Cristiana, Bove Rossella, Carducci Claudia, Carducci Carla, Angeloni Antonio, Pisani Francesco, Leuzzi Vincenzo
Abstract excerpt
Inherited disorders of biogenic amine metabolism are genetically determined conditions resulting in dysfunctions or lack of enzymes involved in the synthesis, degradation, or transport of dopamine, serotonin, adrenaline/noradrenaline, and their metabolites or defects of their cofactor or chaperone biosynthesis. They represent a group of treatable diseases presenting with complex patterns of movement disorders...
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