Pubblicazioni

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

2021 - MOLECULAR GENETICS AND METABOLISM
Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; de Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M.

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

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