An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
Pajares, S., López, R.M., Gort, L., Argudo-Ramírez, A., Marín, J.L., González de Aledo-Castillo, J.M., García-Villoria, J., Arranz, J.A., Del Toro, M., Tort, F., Ugarteburu, O., Casellas, M.D., Fernández, R., Ribes, A.
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Journal Article
Calculation and validation of cut-off values for amino acids and acylcarnitines in dried blood spot samples extracted more than seven days after birth in the catalonian newborn screening program
De Aledo-Castillo, J.M. González, Galera, R.M. López, Argudo-Ramírez, A., Soria, J.L. Marín, Carreira, C. Martínez, Fernández, J. Pérez, García-Villoria, J., García, S. Pajares
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Journal Article
20 years experience with newborn screening for cystic fibrosis in Catalonia
Argudo-Ramírez, A., López, R.M., Pajares, S., De Aledo-Castillo, J.M. González, Delgado, G., Ramón, E., Gartner, S., Cols, M., Asensio, O., Bádenas, C., Casals, T., Marín-Soria, J.L.
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Journal Article
Maternal metabolic defects detected through expanded newborn screening in Catalonia
Pajares, S., López, R.M., Argudo, A., De Aledo-Castillo, J.M. González, Marin, J.L., García, J., Flores, E., Martínez, C., Arranz, J.A., Artuch, R., Ormazabal, A., Del Toro, M., García-Cazorla, A., Meavilla, S., Fernández-Bordon, R.M., Ribes, A.
Published in Clinica chimica acta (01.06.2019)
Published in Clinica chimica acta (01.06.2019)
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Journal Article