Associated Papers
The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Sharma S et al.
Biomolecules, 2025
Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.
García-Vielma C et al.
Molecular Genetics and Genomics : Mgg, 2023
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Merinero B et al.
Jimd Reports, 2018
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans M et al.
Molecular Genetics and Metabolism, 2016
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
Olsen RK et al.
Journal of Inherited Metabolic Disease, 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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