Associated Papers
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2026
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.
Kruijt N et al.
Genes, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Al Bandari M et al.
International Journal of Neonatal Screening, 2024
Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.
Li L et al.
Frontiers in Genetics, 2024
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J et al.
Journal of Inherited Metabolic Disease, 2018
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans M et al.
Molecular Genetics and Metabolism, 2016
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Waisbren SE et al.
Developmental Disabilities Research Reviews, 2013
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Bastin J et al.
Human Molecular Genetics, 2011
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Gobin-Limballe S et al.
Biochimica Et Biophysica Acta, 2010
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Boneh A et al.
Molecular Genetics and Metabolism, 2006
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