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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. Among authors: ugarte m. 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
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: ugarte m. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806
Fungal metabolic model for type I 3-methylglutaconic aciduria.
Rodríguez JM, Ruíz-Sala P, Ugarte M, Peñalva MA. Rodríguez JM, et al. Among authors: ugarte m. J Biol Chem. 2004 Jul 30;279(31):32385-92. doi: 10.1074/jbc.M313044200. Epub 2004 Jun 4. J Biol Chem. 2004. PMID: 15181004
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA. Rivera H, et al. Among authors: ugarte m. Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19. Mitochondrion. 2010. PMID: 20227526
344 results