Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study

OBJECTIVE: Duchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New...

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Detalles Bibliográficos
Autores principales: Tavakoli, Norma P., Gruber, Dorota, Armstrong, Niki, Chung, Wendy K., Maloney, Breanne, Park, Sunju, Wynn, Julia, Koval‐Burt, Carrie, Verdade, Lorraine, Tegay, David H., Cohen, Lilian L., Shapiro, Natasha, Kennedy, Annie, Noritz, Garey, Ciafaloni, Emma, Weinberger, Barry, Ellington, Marty, Schleien, Charles, Spinazzola, Regina, Sood, Sunil, Brower, Amy, Lloyd‐Puryear, Michele, Caggana, Michele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424650/
https://www.ncbi.nlm.nih.gov/pubmed/37350320
http://dx.doi.org/10.1002/acn3.51829

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