Artuch R - Search Results

1

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. Among authors: artuch r. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

2

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E, Matthijs G, Jaeken J, Chabás A. Briones P, et al. Among authors: artuch r. J Inherit Metab Dis. 2002 Dec;25(8):635-46. doi: 10.1023/a:1022825113506. J Inherit Metab Dis. 2002. PMID: 12705494

3

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.

Artuch R, Ferrer I, Pineda J, Moreno J, Busquets C, Briones P, Vilaseca MA. Artuch R, et al. J Neurosci Methods. 2003 May 30;125(1-2):167-71. doi: 10.1016/s0165-0270(03)00051-7. J Neurosci Methods. 2003. PMID: 12763243

4

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P. Vilaseca MA, et al. Among authors: artuch r. Med Clin (Barc). 2004 May 15;122(18):707-16. doi: 10.1016/s0025-7753(04)74362-6. Med Clin (Barc). 2004. PMID: 15171833 Review. Spanish.

5

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

Pancho C, Garcia-Cazorla A, Varea V, Artuch R, Ferrer I, Vilaseca MA, Briones P, Campistol J. Pancho C, et al. Among authors: artuch r. J Pediatr Gastroenterol Nutr. 2005 Feb;40(2):230-2. doi: 10.1097/00005176-200502000-00030. J Pediatr Gastroenterol Nutr. 2005. PMID: 15699704 No abstract available.

6

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibáñez L, Montoya J, Artuch R. Pineda M, et al. Among authors: artuch r. Ann Neurol. 2006 Feb;59(2):394-8. doi: 10.1002/ana.20746. Ann Neurol. 2006. PMID: 16365882

7

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.

Quintana E, Gala S, García-Cazorla A, Montero R, Muñoz-Almagro C, Vilaseca MA, Briones P, Artuch R. Quintana E, et al. Among authors: artuch r. J Inherit Metab Dis. 2007 Apr;30(2):267. doi: 10.1007/s10545-007-0530-1. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372855

8

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R. Montero R, et al. Among authors: artuch r. Cerebellum. 2007;6(2):118-22. doi: 10.1080/14734220601021700. Cerebellum. 2007. PMID: 17510911 Review.

9

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: artuch r. 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

10

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Montero R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, García-Cazorla A, Navas P, Artuch R. Montero R, et al. Among authors: artuch r. Clin Biochem. 2008 Jun;41(9):697-700. doi: 10.1016/j.clinbiochem.2008.03.007. Epub 2008 Mar 20. Clin Biochem. 2008. PMID: 18387363

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