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Page 1
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M. Pérez B, et al. Among authors: merinero b. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549364
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: merinero b. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
Prenatal diagnosis of propionic acidemia.
Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez-Pombo P, Ugarte M. Pérez-Cerdá C, et al. Among authors: merinero b. Prenat Diagn. 2004 Dec 15;24(12):962-4. doi: 10.1002/pd.1057. Prenat Diagn. 2004. PMID: 15614906
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P, Navarrete R, Merinero B, Gómez-Puertas P, Ugarte M. Rodríguez-Pombo P, et al. Among authors: merinero b. Hum Mutat. 2006 Jul;27(7):715. doi: 10.1002/humu.9428. Hum Mutat. 2006. PMID: 16786533
81 results