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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. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
Hyperammonaemia as a cause of psychosis in an adolescent.
Bélanger-Quintana A, Martínez-Pardo M, García MJ, Wermuth B, Torres J, Pallarés E, Ugarte M. Bélanger-Quintana A, et al. Eur J Pediatr. 2003 Nov;162(11):773-5. doi: 10.1007/s00431-002-1126-2. Epub 2003 Aug 27. Eur J Pediatr. 2003. PMID: 12942317
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 MJ, Martínez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernández E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2006 Oct;29(5):685. doi: 10.1007/s10545-006-0342-8. Epub 2006 Aug 12. J Inherit Metab Dis. 2006. PMID: 16906473
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. Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19. Mitochondrion. 2010. PMID: 20227526
67 results