New variants of AADC deficiency expand the knowledge of enzymatic phenotypes

Montioli, R; Bisello, G; Dindo, M; Rossignoli, G; Voltattorni, CB; Bertoldi, M

Bertoldi, M (corresponding author), Univ Verona, Sect Biol Chem, Dept Neurosci Biomed & Movement Sci, Str Le Grazie 8, I-37134 Verona, Italy.

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 2020; 682 ():

Abstract

AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent e......

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