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

• मुख्य लेखकों: Brooke A. Migliore (लेखक), Linran Zhou (लेखक), Martin Duparc (लेखक), Veronica R. Robles (लेखक), Catherine W. Rehder (लेखक), Holly L. Peay (लेखक), Katerina S. Kucera (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...