Pérez Cerdá C - Search Results

1

[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].

Yeste Fernández D, Castelló Girona F, Mora Graupera J, Riudor Taravila E, Arranz Amo J, Ribes Rubió A, Pérez Cerdá C. Yeste Fernández D, et al. Among authors: perez cerda c. An Esp Pediatr. 1996 Jun;44(6):620-2. An Esp Pediatr. 1996. PMID: 8849116 Review. Spanish. No abstract available.

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: perez cerda c. J Inherit Metab Dis. 1995;18(6):748-9. doi: 10.1007/BF02436766. J Inherit Metab Dis. 1995. PMID: 8750614 No abstract available.

3

[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].

Vitoria I, Rausell D, González I, Pérez-Cerdá C, Dalmau J. Vitoria I, et al. Among authors: perez cerda c. An Pediatr (Barc). 2014 Mar;80(3):184-6. doi: 10.1016/j.anpedi.2013.05.035. Epub 2013 Oct 5. An Pediatr (Barc). 2014. PMID: 24099927 Free article. Spanish.

4

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N. Fukao T, et al. Among authors: perez cerda c. Mol Genet Metab. 2002 Mar;75(3):235-43. doi: 10.1006/mgme.2001.3288. Mol Genet Metab. 2002. PMID: 11914035

5

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: perez cerda c. Hum Mutat. 2002 Sep;20(3):180-8. doi: 10.1002/humu.10084. Hum Mutat. 2002. PMID: 12203990

6

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Puisac B, Arnedo M, Casale CH, Ribate MP, Castiella T, Ramos FJ, Ribes A, Pérez-Cerdá C, Casals N, Hegardt FG, Pié J. Puisac B, et al. Among authors: perez cerda c. J Inherit Metab Dis. 2010 Aug;33(4):405-10. doi: 10.1007/s10545-010-9097-3. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532825 Free PMC article.

7

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: perez cerda c. Pediatr Neurol. 2007 Apr;36(4):264-7. doi: 10.1016/j.pediatrneurol.2006.11.014. Pediatr Neurol. 2007. PMID: 17437913

8

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. Pediatr Res. 2005 Sep;58(3):488-91. doi: 10.1203/01.pdr.0000176916.94328.cd. Pediatr Res. 2005. PMID: 16148061

9

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: perez cerda c. 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

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: perez cerda c. 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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