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Article

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

Italian journal of pediatrics - 21 Jan 2021

Fusco Carlo, Leuzzi Vincenzo, Striano Pasquale, Battini Roberta, Burlina Alberto, Spagnoli Carlotta

Abstract excerpt

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-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence,...

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Identifiers

PMID: 33478565
DOI: 10.1186/s13052-021-00954-4
PMCID: PMC7819234

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