Neuropeptide Kyotorphin (Tyrosyl-Arginine) has Decreased Levels in the Cerebro-Spinal Fluid of Alzheimer’s Disease Patients: Potential Diagnostic and Pharmacological Implications

Por Santos, Sara Matos, Garcia-Nimo, Laura, Sá Santos, Sónia, Tavares, Isaura, Cocho, José A., Castanho, Miguel A. R. B.
Publicado em 2013

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

Por Rocha, Hugo, Castiñeiras, Daisy, Delgado, Carmen, Egea, José, Yahyaoui, Raquel, González, Yolanda, Conde, Manuel, González, Inmaculada, Rueda, Inmaculada, Rello, Luis, Vilarinho, Laura, Cocho, José
Publicado no JIMD Rep (2014)

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 no Colomb Med (Cali) (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 em 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 em 2013