Cargando…
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...
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 |
Ejemplares similares
-
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily
por: Messina, MariaAnna, et al.
Publicado: (2018) -
A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns
por: ter Veld, Frank, et al.
Publicado: (2009) -
FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
por: Muru, Kai, et al.
Publicado: (2019) -
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
por: Gramer, Gwendolyn, et al.
Publicado: (2021) -
Cardiac Hypertrophy in Mice with Long-Chain Acyl-CoA Dehydrogenase (LCAD) or Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
por: Cox, Keith B., et al.
Publicado: (2009)