Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be perfo...

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Detalles Bibliográficos
Autores principales: Alcaide, Patricia, Ferrer-López, Isaac, Gutierrez, Leticia, Leal, Fatima, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bellusci, Marcello, Moráis, Ana, Pedrón-Giner, Consuelo, Rausell, Dolores, Correcher, Patricia, Unceta, María, Stanescu, Sinziana, Ugarte, Magdalena, Ruiz-Sala, Pedro, Pérez, Belén
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145342/
https://www.ncbi.nlm.nih.gov/pubmed/35629059
http://dx.doi.org/10.3390/jcm11102933

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