Pubblicazioni

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

The novel R347G pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

2016 - BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Montioli, Riccardo; Paiardini, Alessandro; Kurian, Manju A.; Dindo, Mirco; Rossignoli, Giada; Heales, Simon J. R.; Pope, Simon; Voltattorni, Carla Borri; Bertoldi, Mariarita