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

• Ngā kaituhi matua: Carlo Fusco (Author), Vincenzo Leuzzi (Author), Pasquale Striano (Author), Roberta Battini (Author), Alberto Burlina (Author), the Delphi panel experts' group (Author), Carlotta Spagnoli (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2021-01-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...