Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests m...

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Publicado no:JIMD Rep
Main Authors: Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5953901/
https://ncbi.nlm.nih.gov/pubmed/28755359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_40
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