| Title | Claps | Level | Year | L/Y |
|---|---|---|---|---|
|
Evidence‐based path to newborn screening for duchenne muscular dystrophy
19 auth. J. Mendell, C. Shilling, N. Leslie, K. Flanigan, R. Al-dahhak, J. Gastier-Foster, K. Kneile, D. Dunn, B. Duval, A. Aoyagi, ...
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 …
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.
Published in
Annals of Neurology
|
39
|
9 | 2012 |
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