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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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Detalles Bibliográficos
Autores principales: Messina, MariaAnna, Arena, Alessia, Fiumara, Agata, Iacobacci, Riccardo, Meli, Concetta, Raudino, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569892/
https://www.ncbi.nlm.nih.gov/pubmed/33239584
http://dx.doi.org/10.3390/ijns6030058