Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

• Autori principali: Carlo Fusco (Autore), Vincenzo Leuzzi (Autore), Pasquale Striano (Autore), Roberta Battini (Autore), Alberto Burlina (Autore), the Delphi panel experts' group (Autore), Carlotta Spagnoli (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2021-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering...