I. Vitoria-Miñana

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2019, Clinical genetics.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

C. Pérez-Cerdá, M. Martínez-Pardo, M. Couce, 2014, Orphanet Journal of Rare Diseases.

Implementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases.

J. Poveda-Andrés, I. Vitoria-Miñana, M. Edo-Solsona, 2020, Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

B. Hartmann, P. Huppke, C. Pérez-Cerdá, 2017, Clinical genetics.

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

J. Hernández-Rivas, M. Andrade-Campos, J. M. López-Dupla, 2023, Orphanet Journal of Rare Diseases.