Pubblicazioni

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

2019 - MOLECULAR GENETICS AND METABOLISM
Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

2018 - IUBMB LIFE
Montioli, Riccardo; Janson, Giacomo; Paiardini, Alessandro; Bertoldi, Mariarita; Borri Voltattorni, Carla

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