A statistical algorithm showing coenzyme Q(10) and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

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

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

por 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.
Publicado 2020

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency

por Ruiz-Ortiz, E, Gonzalez-Roca, E, Mensa-Vilaro, A, Rius, J, Plaza, S, Anton, C, Calvo, I, Modesto, C, Anton, J, Arnal, C, Alvarez, C, Alvarez-Coca, J, Becerra, E, Bilbao, N, Camacho, M, Crespo, J, de Diego, C, Diez-Garcia, LF, Espinosa, L, Garcia-Escriva, D, de Gracia, F, Gonzalez, MI, Iglesias, E, Izquierdo, S, Lastra, B, Llobet, P, Lopez, B, Lopez-Gonzalez, V, Martinez, R, Martin-Mateos, MA, Merino, R, Ortega, L, Peiro, ME, de Soto, I Perez, Perez-Mendez, C, Rodriguez-Valverde, V, Ribes, A, Ruiz, A, Sanchez, B, Santos, JL, Sevilla, B, Sotoca, J, Vilas, J, Villoria, A, Yagüe, J, Arostegui, JI
Publicado 2015