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Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried Blood Spots (DBS). We evaluated imprecision and c...

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Detalles Bibliográficos
Autores principales: Migliore, Brooke A., Zhou, Linran, Duparc, Martin, Robles, Veronica R., Rehder, Catherine W., Peay, Holly L., Kucera, Katerina S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883886/
https://www.ncbi.nlm.nih.gov/pubmed/35225934
http://dx.doi.org/10.3390/ijns8010012