Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center

IntroductionIn this retrospective study, we analyzed clinical, biochemical, and genetic data and examined correlations between prevalent variants and outcomes of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.MethodsPatients with VLCAD deficiency confirmed through molecular genetic testin...

Descripción completa

Detalles Bibliográficos

Autores principales:	Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Meshari Fayez Aladhadh, Sara Abdulrahman Alkaff
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2025-05-01
Colección:	Frontiers in Genetics
Materias:	clinical characteristics clinical molecular Saudi Arabia VLCAD deficiency genotype-phenotype correlation
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1584817/full
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!