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- Title
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
- Authors
Mendell, Jerry R; Shilling, Chris; Leslie, Nancy D; Flanigan, Kevin M; al-Dahhak, Roula; Gastier-Foster, Julie; Kneile, Kelley; Dunn, Diane M; Duval, Brett; Aoyagi, Alexander; Hamil, Cindy; Mahmoud, Maha; Roush, Kandice; Bird, Lauren; Rankin, Chelsea; Lilly, Heather; Street, Natalie; Chandrasekar, Ram; Weiss, Robert B
- Abstract
Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing.
- Publication
Annals of neurology, 2012, Vol 71, Issue 3, p304
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.23528