Associated Papers
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Vallejo AN et al.
Clinical & Translational Immunology, 2021
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V et al.
Molecular Genetics and Metabolism, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
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
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Muscle & Nerve, 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
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
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2008
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