Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia

por Céspedes, Nora, Valencia, Angela, Echeverry, Carlos Alberto, Arce-Plata, Maria Isabel, Colón, Cristóbal, Castiñeiras, Daisy E, Hurtado, Paula Margarita, Cocho, Jose Angel, Herrera, Sócrates, Arévalo-Herrera, Myriam
Publicado 2017

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

por Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria Luz, Castro-Gago, Manuel, Fraga, Jose Maria, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria Socorro, Armstrong, Judith, Castiñeiras, Daisy, Cocho, Jose A
Publicado 2014

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

por Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo
Publicado 2013