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143 results

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Page 1
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: briones p. 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
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.
Quintana E, Montero R, Casado M, Navarro-Sastre A, Vilaseca MA, Briones P, Artuch R. Quintana E, et al. Among authors: briones p. J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Aug 15;877(24):2513-8. doi: 10.1016/j.jchromb.2009.06.031. Epub 2009 Jun 30. J Chromatogr B Analyt Technol Biomed Life Sci. 2009. PMID: 19608465
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P. Quintana E, et al. Among authors: briones p. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20. J Inherit Metab Dis. 2009. PMID: 19768653
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: briones p. 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
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: briones p. 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
143 results