Ribes A - Search Results

1

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Puisac B, Teresa-Rodrigo ME, Arnedo M, Gil-Rodríguez MC, Pérez-Cerdá C, Ribes A, Pié A, Bueno G, Gómez-Puertas P, Pié J. Puisac B, et al. Among authors: ribes a. Mol Genet Metab. 2013 Apr;108(4):232-40. doi: 10.1016/j.ymgme.2013.01.019. Epub 2013 Feb 4. Mol Genet Metab. 2013. PMID: 23465862

2

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. Among authors: ribes a. J Inherit Metab Dis. 1995;18(6):748-9. doi: 10.1007/BF02436766. J Inherit Metab Dis. 1995. PMID: 8750614 No abstract available.

3

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.

Casals N, Pié J, Casale CH, Zapater N, Ribes A, Castro-Gago M, Rodriguez-Segade S, Wanders RJ, Hegardt FG. Casals N, et al. Among authors: ribes a. J Lipid Res. 1997 Nov;38(11):2303-13. J Lipid Res. 1997. PMID: 9392428 Free article.

4

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.

Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M. Muro S, et al. Among authors: ribes a. J Med Genet. 1999 May;36(5):412-4. J Med Genet. 1999. PMID: 10353789 Free PMC article.

5

Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.

Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Busquets C, et al. Among authors: ribes a. Mol Genet Metab. 2000 Nov;71(3):535-7. doi: 10.1006/mgme.2000.3082. Mol Genet Metab. 2000. PMID: 11073722

6

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. Gallardo ME, et al. Among authors: ribes a. Am J Hum Genet. 2001 Feb;68(2):334-46. doi: 10.1086/318202. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170888 Free PMC article.

7

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

Perez-Cerda C, García-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, García-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A. Perez-Cerda C, et al. Among authors: ribes a. Pediatr Res. 2005 Sep;58(3):488-91. doi: 10.1203/01.pdr.0000176916.94328.cd. Pediatr Res. 2005. PMID: 16148061

8

Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Cazorla MR, Verdú A, Pérez-Cerdá C, Ribes A. Cazorla MR, et al. Among authors: ribes a. Pediatr Neurol. 2007 Apr;36(4):264-7. doi: 10.1016/j.pediatrneurol.2006.11.014. Pediatr Neurol. 2007. PMID: 17437913

9

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: ribes a. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216

10

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

García-Villoria J, Navarro-Sastre A, Fons C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol J, Delpiccolo C, Cortés N, Messeguer A, Briones P, Ribes A. García-Villoria J, et al. Among authors: ribes a. Clin Biochem. 2009 Jan;42(1-2):27-33. doi: 10.1016/j.clinbiochem.2008.10.006. Epub 2008 Oct 25. Clin Biochem. 2009. PMID: 18996107

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