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

• मुख्य लेखकों: Aashish N. Adhikari (लेखक), Robert J. Currier (लेखक), Hao Tang (लेखक), Coleman T. Turgeon (लेखक), Robert L. Nussbaum (लेखक), Rajgopal Srinivasan (लेखक), Uma Sunderam (लेखक), Pui-Yan Kwok (लेखक), Steven E. Brenner (लेखक), Dimitar Gavrilov (लेखक), Jennifer M. Puck (लेखक), Renata Gallagher (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2020-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...