Associated Papers
Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.
Anastasovska V et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Medium-Chain Acyl-CoA Dehydrogenase Deficiency Disorder as a Cause of Acute Liver Failure in a 23-Month-Old Baby.
Gjeta I et al.
Journal of Medical Cases, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ et al.
Clinical Genetics, 2023
Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency.
Zeka N et al.
Frontiers in Pediatrics, 2023
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Cani I et al.
Epilepsia Open, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Balci MC et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S et al.
Journal of Inherited Metabolic Disease, 2021
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
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Smon A et al.
The Journal of International Medical Research, 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
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
Gramer G et al.
Jimd Reports, 2015
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S et al.
Thescientificworldjournal, 2013
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL et al.
Molecular Genetics and Metabolism, 2010
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
McKinney JT et al.
Molecular Genetics and Metabolism, 2004
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS et al.
American Journal of Human Genetics, 2001