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Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP(®) Neonatal Creatine Kinase-MM Kit in a US and Danish Population

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involv...

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Detalles Bibliográficos
Autores principales: Timonen, Anne, Lloyd-Puryear, Michele, Hougaard, David M., Meriö, Liisa, Mäkinen, Pauliina, Laitala, Ville, Pölönen, Tuukka, Skogstrand, Kristin, Kennedy, Annie, Airenne, Sari, Polari, Hanna, Korpimäki, Teemu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510235/
https://www.ncbi.nlm.nih.gov/pubmed/33072986
http://dx.doi.org/10.3390/ijns5030027