Côd QR

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Prif Awduron: Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts’ group, Carlotta Spagnoli
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2021-01-01
Cyfres:Italian Journal of Pediatrics
Pynciau:
AADC deficiency
Aromatic L-amino acid decarboxylase deficiency
Metabolic disease
Neurometabolic disorder
Delphi consensus
Delphi method
Mynediad Ar-lein:https://doi.org/10.1186/s13052-021-00954-4
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg