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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ital J Pediatr
Egile Nagusiak: Fusco, Carlo, Leuzzi, Vincenzo, Striano, Pasquale, Battini, Roberta, Burlina, Alberto, Spagnoli, Carlotta
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2021
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7819234/
https://ncbi.nlm.nih.gov/pubmed/33478565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-021-00954-4
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