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

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

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...

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Bibliographic Details
Main Authors: MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, Federica Raudino
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
tandem mass
short chain acyl-CoA dehydrogenase deficiency
prevalence
Online Access:https://www.mdpi.com/2409-515X/6/3/58

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