Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations - Himmelreich, Nastassja; Montioli, Riccardo; Garbade, Sven; Kopesky, Jeffrey; Elsea, Sarah H.; Carducci, Carla; Voltattorni, Carla B.; Blau, Nenad (Molecular genetics and metabolism, 2022)
Online verfügbar 12 November 2022, Artikelversion 22 November 2022