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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. 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
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Navarro-Sastre A, et al. Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31. Mol Genet Metab. 2012. PMID: 22980518
Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.
Arias A, García-Villoria J, Rojo A, Buján N, Briones P, Ribes A. Arias A, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:23-6. doi: 10.1016/j.jchromb.2012.09.027. Epub 2012 Sep 20. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 23122397
69 results