M. Ugarte
Centro de Diagnóstico de Enfermedades Moleculares
Departamento de Biología Molecular
Facultad Ciencias
Universidad Autónoma de Madrid
Spain
Name/email consistency: high
- Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA. Ugarte, M., Aguado, C., Desviat, L.R., Sanchez-Alcudia, R., Rincon, A., Perez, B. Am. J. Hum. Genet. (2007)
- Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. Merinero, B., Pérez-Cerdá, C., Ruiz Sala, P., Ferrer, I., García, M.J., Martínez Pardo, M., Belanger-Quintana, A., de la Mota, J.L., Martin-Hernández, E., Vianey-Saban, C., Bischoff, C., Gregersen, N., Ugarte, M. J. Inherit. Metab. Dis. (2006)
- Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Ugarte, M., Pérez-Cerdá, C., Rodríguez-Pombo, P., Desviat, L.R., Pérez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R.A. Hum. Mutat. (1999)