Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

por Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.
Publicado 2016

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

por Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.
Publicado 2013

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

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

por Marti-Sanchez, L., Ortigoza-Escobar, J. D., Darling, A., Villaronga, M., Baide, H., Molero-Luis, M., Batllori, M., Vanegas, M. I., Muchart, J., Aquino, L., Artuch, R., Macaya, A., Kurian, M. A., Dueñas, Pérez
Publicado 2018