Associated Papers
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.
Sambuughin N et al.
International Journal of Molecular Sciences, 2024
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_1-Mutalyzer
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Vallejo AN et al.
Clinical & Translational Immunology, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J et al.
Journal of Inherited Metabolic Disease, 2018
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD et al.
Molecular Genetics and Metabolism, 2016
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
Schiff M et al.
Molecular Genetics and Metabolism, 2013
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
The 2006 Human Genome Variation Society scientific meeting.
Oetting WS
Human Mutation, 2007
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Merritt JL et al.
Molecular Genetics and Metabolism, 2006
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