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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318
[Epidemiological study of the metabolic diseases with homocystinuria in Spain].
García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García-Cazorla A, Gómez-López L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M, Lambruschini N. García-Jiménez MC, et al. An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. An Pediatr (Barc). 2012. PMID: 22047794 Free article. Spanish.
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C. Martín-Hernández E, et al. Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Orphanet J Rare Dis. 2014. PMID: 25433810 Free PMC article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4. J Hum Genet. 2007. PMID: 32033511
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Busquets C, et al. Pediatr Res. 2000 Sep;48(3):315-22. doi: 10.1203/00006450-200009000-00009. Pediatr Res. 2000. PMID: 10960496
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
67 results