Associated Papers
Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol.
Crenshaw MM et al.
Molecular Genetics and Metabolism, 2025
The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Sharma S et al.
Biomolecules, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
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
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC et al.
Jimd Reports, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
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
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy H et al.
American Journal of Human Genetics, 2016
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
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Diekman E et al.
Jimd Reports, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Hoffmann L et al.
Journal of Inherited Metabolic Disease, 2012
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
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2008
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
Mathur A et al.
Circulation, 1999