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

• 主要な著者: Se Jin An (著者), Sook Za Kim (著者), Gu Hwan Kim (著者), Han Wook Yoo (著者), Han Hyuk Lim (著者)
• フォーマット: 図書
• 出版事項: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...