New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
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DOI: 10.1016/j.abb.2020.108263
Abstract: AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent enzyme responsible for the synthesis of dopamine and serotonin. Here, following a biochemical… read more here.
Keywords: variants aadc; deficiency expand; new variants; deficiency ... See more keywords