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
Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, JenniferVolume:
6
Journal:
International Journal of Neonatal Screening
DOI:
10.3390/ijns6020041
Date:
May, 2020
File:
PDF, 220 KB
2020