Briones P - Search Results

1

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B. Pérez-Cerdá C, et al. Among authors: briones p. J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27. J Pediatr. 2017. PMID: 28139241

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

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: briones p. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.

4

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

5

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Casado M, et al. Among authors: briones p. Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y. Cerebellum. 2012. PMID: 22012410

6

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

7

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: briones p. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.

8

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

9

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. Among authors: briones p. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

10

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

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