Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

Por Muro, S, Perez-Cerda, C, Rodriguez-Pombo, P, Perez, B, Briones, P, Ribes, A, Ugarte, M
Publicado em 1999

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Por Rodríguez-Pombo, P, Hoenicka, J, Muro, S, Pérez, B, Pérez-Cerdá, C, Richard, E, Desviat, L R, Ugarte, M
Publicado em 1998

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

Por Martín-Hernández, E, Quijada-Fraile, P, Oliveros-Leal, L, García-Silva, MT, Pérez-Cerdá, C, Baro-Fernández, M, Pérez-Alonso, V, Vivanco, JL
Publicado em 2012

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

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Por Kassovska-Bratinova, S., Fukao, T., Song, X. Q., Duncan, A. M., Chen, H. S., Robert, M. F., Pérez-Cerdá, C., Ugarte, M., Chartrand, C., Vobecky, S., Kondo, N., Mitchell, G. A.
Publicado em 1996