Ribes A - Search Results

1

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Tort F, et al. Among authors: ribes a. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. Mol Genet Metab. 2020. PMID: 33153867

2

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

3

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

4

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

5

Methods for the diagnosis of creatine deficiency syndromes: a comparative study.

Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A. Arias A, et al. Among authors: ribes a. J Neurosci Methods. 2006 Sep 30;156(1-2):305-9. doi: 10.1016/j.jneumeth.2006.03.005. Epub 2006 Apr 18. J Neurosci Methods. 2006. PMID: 16621013

6

[Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].

Mahfoud A, Domínguez CL, Rizzo C, García-Villoria J, Navarro-Sastre A, Ribes A. Mahfoud A, et al. Among authors: ribes a. Rev Neurol. 2007 May 16-31;44(10):610-5. Rev Neurol. 2007. PMID: 17523120 Spanish.

7

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

8

Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency.

López-Laso E, García-Villoria J, Martín E, Duque P, Cano A, Ribes A. López-Laso E, et al. Among authors: ribes a. J Inherit Metab Dis. 2007 Nov;30(6):979. doi: 10.1007/s10545-007-0699-3. Epub 2007 Oct 22. J Inherit Metab Dis. 2007. PMID: 17957492

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

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

Navarro-Sastre A, Martín-Hernández E, Campos Y, Quintana E, Medina E, de Las Heras RS, Lluch M, Muñoz A, del Hoyo P, Martín R, Gort L, Briones P, Ribes A. Navarro-Sastre A, et al. Among authors: ribes a. Mol Genet Metab. 2008 Jun;94(2):234-9. doi: 10.1016/j.ymgme.2008.01.012. Epub 2008 Mar 10. Mol Genet Metab. 2008. PMID: 18329934

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