Navarro-Sastre A - Search Results

1

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: navarro sastre a. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

Cervical length and gestational age at admission as predictors of intra-amniotic inflammation in preterm labor with intact membranes.

Palacio M, Cobo T, Bosch J, Filella X, Navarro-Sastre A, Ribes A, Gratacós E. Palacio M, et al. Ultrasound Obstet Gynecol. 2009 Oct;34(4):441-7. doi: 10.1002/uog.6437. Ultrasound Obstet Gynecol. 2009. PMID: 19731395 Free article.

10

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group. Quintana E, et al. Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002461

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