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

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 high-qua...

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Detalles Bibliográficos
Autores principales:	Fusco, Carlo, Leuzzi, Vincenzo, Striano, Pasquale, Battini, Roberta, Burlina, Alberto, Spagnoli, Carlotta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819234/ https://www.ncbi.nlm.nih.gov/pubmed/33478565 http://dx.doi.org/10.1186/s13052-021-00954-4

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