Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
AADC
Aromatic l-amino acid decarboxylase deficiency
Case report
Exome sequencing
Neurometabolic disorder
Journal
Heliyon
ISSN: 2405-8440
Titre abrégé: Heliyon
Pays: England
ID NLM: 101672560
Informations de publication
Date de publication:
15 Jan 2024
15 Jan 2024
Historique:
received:
18
08
2023
revised:
20
10
2023
accepted:
12
12
2023
medline:
9
1
2024
pubmed:
9
1
2024
entrez:
9
1
2024
Statut:
epublish
Résumé
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the
Identifiants
pubmed: 38192810
doi: 10.1016/j.heliyon.2023.e23746
pii: S2405-8440(23)10954-6
pmc: PMC10772193
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e23746Informations de copyright
© 2023 The Authors. Published by Elsevier Ltd.
Déclaration de conflit d'intérêts
The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.