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...

Повний опис

Бібліографічні деталі

Автори:	Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Meshari Fayez Aladhadh, Sara Abdulrahman Alkaff
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Frontiers Media S.A. 2025-05-01
Серія:	Frontiers in Genetics
Предмети:	clinical characteristics clinical molecular Saudi Arabia VLCAD deficiency genotype-phenotype correlation
Онлайн доступ:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1584817/full
Теги:	Додати тег Немає тегів, Будьте першим, хто поставить тег для цього запису!