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

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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Main Authors: Brooke A. Migliore (Author), Linran Zhou (Author), Martin Duparc (Author), Veronica R. Robles (Author), Catherine W. Rehder (Author), Holly L. Peay (Author), Katerina S. Kucera (Author)
Format: Book
Published: MDPI AG, 2022-01-01T00:00:00Z.
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