Mariarita Bertoldi
0000-0002-2337-9928
4 papers found
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Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
The novel R347g pathogenic mutation Of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency
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