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

• Автори: Carlo Fusco (Автор), Vincenzo Leuzzi (Автор), Pasquale Striano (Автор), Roberta Battini (Автор), Alberto Burlina (Автор), the Delphi panel experts' group (Автор), Carlotta Spagnoli (Автор)
• Формат: Книга
• Опубліковано: BMC, 2021-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...