Riudor E - Search Results

1

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M. Arranz JA, et al. Among authors: riudor e. J Inherit Metab Dis. 2007 Oct;30(5):813. doi: 10.1007/s10545-007-0578-y. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570074

2

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.

Riudor E, Arranz JA, Rodés M, Rubio V, Sentís M, Burlina AB. Riudor E, et al. J Inherit Metab Dis. 2000 Nov;23(7):662-8. doi: 10.1023/a:1005610325170. J Inherit Metab Dis. 2000. PMID: 11117427

3

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.

Arranz JA, Riudor E, Marco-Marín C, Rubio V. Arranz JA, et al. Among authors: riudor e. J Inherit Metab Dis. 2007 Apr;30(2):217-26. doi: 10.1007/s10545-007-0429-x. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334707

4

Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.

Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensen B, Sovik O. Riudor E, et al. J Inherit Metab Dis. 1995;18(6):748-9. doi: 10.1007/BF02436766. J Inherit Metab Dis. 1995. PMID: 8750614 No abstract available.

5

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. 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.

6

Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency.

Arranz JA, Riudor E, Rodés M, Roig M, Climent C, Rubio V, Sentís M, Burlina A. Arranz JA, et al. Among authors: riudor e. Clin Chem. 1999 Jul;45(7):995-1001. Clin Chem. 1999. PMID: 10388475 Clinical Trial.

7

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.

Riudor E, Arranz JA, Alvarez R, Carlsson K, del Toro M, Salmerón F, Piñol F, Ristoff E, Sentis M, Larsson A. Riudor E, et al. J Inherit Metab Dis. 2001 Jun;24(3):404-6. doi: 10.1023/a:1010569021839. J Inherit Metab Dis. 2001. PMID: 11486906 No abstract available.

8

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E. Arranz JA, et al. Among authors: riudor e. Hum Mutat. 2002 Sep;20(3):180-8. doi: 10.1002/humu.10084. Hum Mutat. 2002. PMID: 12203990

9

Partial ornithine transcarbamylase deficiency.

Riudor E, Arranz JA, Rodés M. Riudor E, et al. Pediatrics. 2003 May;111(5 Pt 1):1123-4; author reply 1123-4. doi: 10.1542/peds.111.5.1123-a. Pediatrics. 2003. PMID: 12728104 No abstract available.

10

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: riudor e. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554

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