Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Por Chabás, A, Gort, L, Montfort, M, Castelló, F, Domínguez, M C, Grinberg, D, Vilageliu, L
Publicado em 1998

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

Por Pérez, B., Briones, P., Quelhas, D., Artuch, R., Vega, A. I., Quintana, E., Gort, L., Ecay, M. J., Matthijs, G., Ugarte, M., Pérez-Cerdá, C.
Publicado em 2011

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 no Sci Rep (2016)

Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations

Por Morrone, A, Tylee, K.L., Al-Sayed, M, Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Riberio, I., Wang, R.Y., Miller, N.
Publicado em 2014