Ribes A - Search Results

1

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.

Ugarteburu O, Sánchez-Vilés M, Ramos J, Barcos-Rodríguez T, Garrabou G, García-Villoria J, Ribes A, Tort F. Ugarteburu O, et al. Among authors: ribes a. J Clin Med. 2020 Mar 26;9(4):913. doi: 10.3390/jcm9040913. J Clin Med. 2020. PMID: 32225089 Free PMC article.

2

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

Arias A, Garcia-Villoria J, Ribes A. Arias A, et al. Among authors: ribes a. Mol Genet Metab. 2004 Jul;82(3):220-3. doi: 10.1016/j.ymgme.2004.04.009. Mol Genet Metab. 2004. PMID: 15234335

3

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

4

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R. Arias A, et al. Among authors: ribes a. Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10. Clin Biochem. 2007. PMID: 17825809

5

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

6

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

Quintana E, Navarro-Sastre A, Hernández-Pérez JM, García-Villoria J, Montero R, Artuch R, Ribes A, Briones P. Quintana E, et al. Among authors: ribes a. Clin Biochem. 2009 Mar;42(4-5):408-15. doi: 10.1016/j.clinbiochem.2008.12.013. Epub 2008 Dec 31. Clin Biochem. 2009. PMID: 19146845

7

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group. Richard E, et al. Among authors: ribes a. Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107. Hum Mutat. 2009. PMID: 19760748

8

Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites.

Serra-Pérez A, Planas AM, Núñez-O'Mara A, Berra E, García-Villoria J, Ribes A, Santalucía T. Serra-Pérez A, et al. Among authors: ribes a. J Biol Chem. 2010 Jun 11;285(24):18217-24. doi: 10.1074/jbc.M110.101048. Epub 2010 Apr 5. J Biol Chem. 2010. PMID: 20368331 Free PMC article.

9

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Quintana E, et al. Among authors: ribes a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652410

10

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A. García-Villoria J, et al. Among authors: ribes a. Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664630 Free PMC article.

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