Two Years of Newborn Screening for Duchenne Muscular Dystrophy as a Part of the Statewide Early Check Research Program in North Carolina

Autor: Kucera, Katerina S., Boyea, Beth Lincoln, Migliore, Brooke, Potter, Sarah Nelson, Robles, Veronica R., Kutsa, Oksana, Cope, Heidi, Okoniewski, Katherine C., Wheeler, Anne, Rehder, Catherine W., Smith, Edward C., Peay, Holly L.
Zdroj: Genetics in Medicine; 20230101, Issue: Preprints
Abstrakt: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS, we conducted a prospective study under the Early Check voluntary NBS research program in North Carolina, USA.
Databáze: Supplemental Index