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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Bibliographic Details
Main Authors: Brooke A. Migliore, Linran Zhou, Martin Duparc, Veronica R. Robles, Catherine W. Rehder, Holly L. Peay, Katerina S. Kucera
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Neonatal Screening
Subjects:
creatine kinase-MM
dried blood spots
Duchenne Muscular Dystrophy
newborn screening
assay performance
sample storage
Online Access:https://www.mdpi.com/2409-515X/8/1/12

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https://www.mdpi.com/2409-515X/8/1/12

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