A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

by D. Yubero, A. Adin, R. Montero, C. Jou, C. Jiménez-Mallebrera, A. García-Cazorla, A. Nascimento, M. M. O’Callaghan, J. Montoya, L. Gort, P. Navas, A. Ribes, M. D. Ugarte, R. Artuch
Published 2016-12-01

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

by S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes
Published 2020-03-01