Navarro-Sastre A - Search Results

1

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Among authors: navarro sastre a. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954

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

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

8

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

9

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A. Navarro-Sastre A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S293-6. doi: 10.1007/s10545-010-9155-x. Epub 2010 Jul 8. J Inherit Metab Dis. 2010. PMID: 20614188

10

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A. García-Villoria J, et al. Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664630 Free PMC article.

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