Associated Papers
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2026
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.
Çınar M et al.
Neuropediatrics, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
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
ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.
Baldo F et al.
Genes, 2025
The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Sharma S et al.
Biomolecules, 2025
Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant.
Zhou W et al.
Molecular Genetics and Metabolism Reports, 2025
Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.
Alsharhan H et al.
International Journal of Neonatal Screening, 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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.
Alhumaidi SS et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 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
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Upadia J et al.
Molecular Genetics and Metabolism Reports, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2022
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
D'Annibale OM et al.
Cells, 2022
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
D'Annibale OM et al.
Journal of Inherited Metabolic Disease, 2022
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson D et al.
Jimd Reports, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.
Stenlid R et al.
Clinical and Translational Science, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
Remec ZI et al.
Frontiers in Genetics, 2021
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Vallejo AN et al.
Clinical & Translational Immunology, 2021
Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.
Pavez-Giani MG et al.
Frontiers in Cell and Developmental Biology, 2021
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F et al.
European Journal of Neurology, 2020
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Knottnerus SJG et al.
Journal of Inherited Metabolic Disease, 2020
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
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
Investigating the genetic susceptibility to exertional heat illness.
Gardner L et al.
Journal of Medical Genetics, 2020
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Alhashem A et al.
Saudi Medical Journal, 2020
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Li X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity.
Senefeld CM et al.
Journal of Human Genetics, 2020