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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: riudor e. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Martínez G, Jiménez-Sánchez G, Divry P, Vianey-Saban C, Riudor E, Rodés M, Briones P, Ribes A. Martínez G, et al. Among authors: riudor e. Clin Chim Acta. 1997 Nov 28;267(2):143-54. doi: 10.1016/s0009-8981(97)00130-7. Clin Chim Acta. 1997. PMID: 9469249 Clinical Trial.
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
Martínez G, Ribes A, Briones P, Rodés M, Baldellou A, Pineda M, Rodrigo C, Lorente I, García-Silva MT, Riudor E, Jaraba P, Lopez-Casas J, Nuñez-Roldan A. Martínez G, et al. Among authors: riudor e. J Inherit Metab Dis. 1998 Aug;21(6):693-4. doi: 10.1023/a:1005461407231. J Inherit Metab Dis. 1998. PMID: 9762615 No abstract available.
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: riudor e. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
36 results