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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...
Autores principales: | Migliore, Brooke A., Zhou, Linran, Duparc, Martin, Robles, Veronica R., Rehder, Catherine W., Peay, Holly L., Kucera, Katerina S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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