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Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48. Published online November 30, 2016 DOI: https://doi.org/10.3345/kjp.2016.59.11.S45 |
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Compound heterozygous mutations ofACADSgene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review Korean Journal of Pediatrics. 2016;59(Suppl 1):S45  Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry Journal of Genetic Medicine. 2012;9(1):42-66 Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency Pediatric Anesthesia. 2005;15(9):771-777 A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene BMC Medical Genomics. 2020;13(1): Impact of Missing Data in Criteria of Least Consensus on Acmg Newborn Screening Recommendations for Short-Chain Acyl-Coa Dehydrogenase Deficiency Value in Health. 2016;19(3):A38 Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn The Lancet. 1990;335(8700):1288-1289 Perioperative Management of a Patient With Short Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report Journal of Oral and Maxillofacial Surgery. 2008;66(10):2164-2165 Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency Human Genetics. 2010;127(6):619-628 Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France BMC Pediatrics. 2012;12(1): Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience Genetics in Medicine. 2012;14(3):342-347 |
