Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

• 主要な著者: MariaAnna Messina (著者), Alessia Arena (著者), Agata Fiumara (著者), Riccardo Iacobacci (著者), Concetta Meli (著者), Federica Raudino (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2020-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of...