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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主要な著者:	Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Meshari Fayez Aladhadh, Sara Abdulrahman Alkaff
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2025-05-01
シリーズ:	Frontiers in Genetics
主題:	clinical characteristics clinical molecular Saudi Arabia VLCAD deficiency genotype-phenotype correlation
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1584817/full
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