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

• 主要な著者: Anne Timonen (著者), Michele Lloyd-Puryear (著者), David M. Hougaard (著者), Liisa Meriö (著者), Pauliina Mäkinen (著者), Ville Laitala (著者), Tuukka Pölönen (著者), Kristin Skogstrand (著者), Annie Kennedy (著者), Sari Airenne (著者), Hanna Polari (著者), Teemu Korpimäki (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2019-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...