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

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...

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Autors principals:	Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts’ group, Carlotta Spagnoli
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2021-01-01
Col·lecció:	Italian Journal of Pediatrics
Matèries:	AADC deficiency Aromatic L-amino acid decarboxylase deficiency Metabolic disease Neurometabolic disorder Delphi consensus Delphi method
Accés en línia:	https://doi.org/10.1186/s13052-021-00954-4
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