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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...

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Principais autores: Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Meshari Fayez Aladhadh, Sara Abdulrahman Alkaff
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Assuntos:
clinical characteristics
clinical
molecular
Saudi Arabia
VLCAD deficiency
genotype-phenotype correlation
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fgene.2025.1584817/full
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