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

Long-term, prospective studies integrating metabolic profiling, functional assays, and multi-omics approaches will be essential to unravel the complex interplay between genetic variants and clinical expression and prognostic outcomes in VLCAD deficiency.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-05-30
DOI
https://doi.org/10.3389/fgene.2025.1584817
Primary Topic
Metabolism and Genetic Disorders
Type
article
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0.00
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article

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

Meshari Aladhadh, Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Sara Abdulrahman Alkaff
Frontiers in Genetics
Metabolism and Genetic Disorders
article

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

Meshari Aladhadh, Suzan Suliman Alhumaidi, Fahad Abdulrahman Algaeed, Sara Abdulrahman Alkaff
article en

Abstract

Long-term, prospective studies integrating metabolic profiling, functional assays, and multi-omics approaches will be essential to unravel the complex interplay between genetic variants and clinical expression and prognostic outcomes in VLCAD deficiency.

Frontiers in GeneticsVol. 16
King Saud Medical City (SA)
Openalex Percentile: Top 85%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center — Meshari Aladhadh, Suzan Suliman Alhumaidi, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS