Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

• Main Authors: Aashish N. Adhikari (Author), Robert J. Currier (Author), Hao Tang (Author), Coleman T. Turgeon (Author), Robert L. Nussbaum (Author), Rajgopal Srinivasan (Author), Uma Sunderam (Author), Pui-Yan Kwok (Author), Steven E. Brenner (Author), Dimitar Gavrilov (Author), Jennifer M. Puck (Author), Renata Gallagher (Author)
• פורמט: ספר
• יצא לאור: MDPI AG, 2020-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-oxidation caused by pathogenic variants in the <i>ACADS</i> gene. Analyte testing for SCADD in blood and urine, including newborn screening (NBS) using tandem mass spectrometry (MS/MS) on dr...