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

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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Bibliographic Details
Main Authors: Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts’ group, Carlotta Spagnoli
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Italian Journal of Pediatrics
Subjects:
AADC deficiency
Aromatic L-amino acid decarboxylase deficiency
Metabolic disease
Neurometabolic disorder
Delphi consensus
Delphi method
Online Access:https://doi.org/10.1186/s13052-021-00954-4

Internet

https://doi.org/10.1186/s13052-021-00954-4

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