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    Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Garbade, Sven (Author) , Kopesky, Jeffrey (Author) , Elsea, Sarah H. (Author) , Carducci, Carla (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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  2. 2

    Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency by Bräutigam, Christa (Author) , Hyland, K. (Author) , Wevers, R. (Author) , Sharma, R. (Author) , Wagner, L. (Author) , Stock, G.-J. (Author) , Heitmann, F. (Author) , Hoffmann, Georg F. (Author) ,


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