Navarro-Sastre A - Search Results

1

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

2

[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. Rev Neurol. 2007 May 16-31;44(10):610-5. Rev Neurol. 2007. PMID: 17523120 Spanish.

3

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. 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

4

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. 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

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. 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

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.

Montero R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, García-Cazorla A, Montoya J, Navas P, Artuch R. Montero R, et al. Clin Biochem. 2009 May;42(7-8):742-5. doi: 10.1016/j.clinbiochem.2008.10.027. Epub 2008 Dec 3. Clin Biochem. 2009. PMID: 19094978

7

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. 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

8

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, García-Cazorla A, Serrano M, Pineda M, Campistol J. Pérez-Dueñas B, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):534-40. doi: 10.1016/j.ejpn.2008.12.002. Epub 2009 Jan 22. Eur J Paediatr Neurol. 2009. PMID: 19167251

9

Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes.

Cobo T, Palacio M, Navarro-Sastre A, Ribes A, Bosch J, Filella X, Gratacós E. Cobo T, et al. Am J Obstet Gynecol. 2009 May;200(5):499.e1-6. doi: 10.1016/j.ajog.2008.12.036. Am J Obstet Gynecol. 2009. PMID: 19375569

10

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. 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

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