Ribes A - Search Results

1

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.

Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, Kølvraa S. Corydon MJ, et al. Among authors: ribes a. Pediatr Res. 1996 Jun;39(6):1059-66. doi: 10.1203/00006450-199606000-00021. Pediatr Res. 1996. PMID: 8725270

2

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS. Ribes A, et al. J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978. J Inherit Metab Dis. 1992. PMID: 1405471 No abstract available.

3

Glutaric aciduria type I: unusual biochemical presentation.

Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Campistol J, et al. Among authors: ribes a. J Pediatr. 1992 Jul;121(1):83-6. doi: 10.1016/s0022-3476(05)82548-x. J Pediatr. 1992. PMID: 1625098

4

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M. Tanaka K, et al. Among authors: ribes a. Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008. Pediatr Res. 1997. PMID: 9029639

5

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, Schwartz M. Christensen E, et al. Among authors: ribes a. J Inherit Metab Dis. 1997 Jul;20(3):383-6. doi: 10.1023/a:1005390214391. J Inherit Metab Dis. 1997. PMID: 9266361 No abstract available.

6

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: ribes a. 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.

7

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: ribes a. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414

8

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.

Ribes A, Riudor E, Garavaglia B, Martinez G, Arranz A, Invernizzi F, Briones P, Lamantea E, Sentís M, Barceló A, Roig M. Ribes A, et al. Eur J Pediatr. 1998 Apr;157(4):317-20. doi: 10.1007/s004310050819. Eur J Pediatr. 1998. PMID: 9578969

9

High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.

Martinez G, Garcia-Lozano JR, Ribes A, Maldonado MD, Baldellou A, de Pablo R, Nuñez-Roldan A. Martinez G, et al. Among authors: ribes a. Pediatr Res. 1998 Jul;44(1):83-4. doi: 10.1203/00006450-199807000-00013. Pediatr Res. 1998. PMID: 9667375

10

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Riudor E, Arranz JA, Anguera R, Salcedo S, Roig M, del Toro M, Bahima C, Martínez G, Ribes A, Vianey-Saban C, Sentís M. Riudor E, et al. Among authors: ribes a. J Inherit Metab Dis. 1998 Aug;21(6):673-4. doi: 10.1023/a:1005488718618. J Inherit Metab Dis. 1998. PMID: 9762604 No abstract available.

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