Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

• Main Authors: Se Jin An (Author), Sook Za Kim (Author), Gu Hwan Kim (Author), Han Wook Yoo (Author), Han Hyuk Lim (Author)
• פורמט: ספר
• יצא לאור: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped de...