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

• Auteurs principaux: Brooke A. Migliore (Auteur), Linran Zhou (Auteur), Martin Duparc (Auteur), Veronica R. Robles (Auteur), Catherine W. Rehder (Auteur), Holly L. Peay (Auteur), Katerina S. Kucera (Auteur)
• Format: Livre
• Publié: MDPI AG, 2022-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...