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M. Ugarte

Centro de Diagnóstico de Enfermedades Moleculares

Departamento de Biología Molecular

Facultad Ciencias

Universidad Autónoma de Madrid

Spain

[email]@cbm.uam.es

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad Ciencias, Universidad Autónoma de Madrid, Spain. 2006 - 2007
  • Centro de Biología Molecular "Severo Ochoa, " CSIC-UAM, Madrid, Spain. 1999

References

  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
 
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