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Page 1
Bilateral striatal lesions in childhood.
Roig M, Calopa M, Rovira A, Macaya A, Riudor E, Losada M. Roig M, et al. Among authors: riudor e. Pediatr Neurol. 1993 Sep-Oct;9(5):349-58. doi: 10.1016/0887-8994(93)90103-j. Pediatr Neurol. 1993. PMID: 8292209 Review.
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.
Requirement of high biotin doses in a case of biotinidase deficiency.
Riudor E, Vilaseca MA, Briones P, Ribes A, Suñé J, Martorell R, Macaya A, Roig M, Ballabriga A. Riudor E, et al. J Inherit Metab Dis. 1989;12(3):338-9. doi: 10.1007/BF01799233. J Inherit Metab Dis. 1989. PMID: 2515382 No abstract available.
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.
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
36 results