Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia

Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare and often severe neurometabolic disorder resulting from variants in the dopa decarboxylase (DDC) gene. A timely diagnosis is critical to prevent secondary complications, promote development, and optimize outcomes from future inno...

Descripción completa

Detalles Bibliográficos
Autores principales: Abukhaled, Musaad, Alrakaf, Laila, Aldhalaan, Hesham, Al Yamani, Suad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885213/
https://www.ncbi.nlm.nih.gov/pubmed/36727005
http://dx.doi.org/10.3389/fped.2022.1016239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885213/
https://www.ncbi.nlm.nih.gov/pubmed/36727005
http://dx.doi.org/10.3389/fped.2022.1016239

Ejemplares similares