Mónica Ruiz-Pons

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.

Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period.

Mónica Ruiz-Pons, José León-González, V. García-Nieto, 2014, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.

E. Rodrigues, O. Villate, G. Pintos-Morell, 2019, Journal of pharmaceutical and biomedical analysis.