Briones P - Search Results

1

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

Pancho C, Garcia-Cazorla A, Varea V, Artuch R, Ferrer I, Vilaseca MA, Briones P, Campistol J. Pancho C, et al. Among authors: briones p. J Pediatr Gastroenterol Nutr. 2005 Feb;40(2):230-2. doi: 10.1097/00005176-200502000-00030. J Pediatr Gastroenterol Nutr. 2005. PMID: 15699704 No abstract available.

2

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P. Vilaseca MA, et al. Among authors: briones p. Med Clin (Barc). 2004 May 15;122(18):707-16. doi: 10.1016/s0025-7753(04)74362-6. Med Clin (Barc). 2004. PMID: 15171833 Review. Spanish.

3

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.

Artuch R, Ferrer I, Pineda J, Moreno J, Busquets C, Briones P, Vilaseca MA. Artuch R, et al. Among authors: briones p. J Neurosci Methods. 2003 May 30;125(1-2):167-71. doi: 10.1016/s0165-0270(03)00051-7. J Neurosci Methods. 2003. PMID: 12763243

4

Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.

Pineda M, Solano A, Artuch R, Andreu AL, Playan A, Vilaseca MA, Colomer J, Briones P, Casademont J, Montoya J. Pineda M, et al. Among authors: briones p. Pediatr Res. 2004 Jul;56(1):55-9. doi: 10.1203/01.PDR.0000130475.20571.98. Epub 2004 May 5. Pediatr Res. 2004. PMID: 15128915

5

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

6

Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation.

Colomé C, Ferrer I, Artuch R, Vilaseca MA, Pineda M, Briones P. Colomé C, et al. Among authors: briones p. Clin Chem Lab Med. 2000 Oct;38(10):965-9. doi: 10.1515/CCLM.2000.143. Clin Chem Lab Med. 2000. PMID: 11140630

7

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E, Matthijs G, Jaeken J, Chabás A. Briones P, et al. J Inherit Metab Dis. 2002 Dec;25(8):635-46. doi: 10.1023/a:1022825113506. J Inherit Metab Dis. 2002. PMID: 12705494

8

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA. Pérez-Dueñas B, et al. Among authors: briones p. Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22. Eur J Paediatr Neurol. 2009. PMID: 18948042

9

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibáñez L, Montoya J, Artuch R. Pineda M, et al. Among authors: briones p. Ann Neurol. 2006 Feb;59(2):394-8. doi: 10.1002/ana.20746. Ann Neurol. 2006. PMID: 16365882

10

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

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