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Page 1
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.
[Waardenburg syndrome: neonatal diagnosis apropos of a case].
Nacher Fernández A, Vitoria Miñana I, Aguilera Olmos R, Buesa Ibáñez E. Nacher Fernández A, et al. An Esp Pediatr. 1984 Jun;20(9):911-3. An Esp Pediatr. 1984. PMID: 6486586 Spanish. No abstract available.
[Incontinentia pigmenti: neonatal diagnosis].
Aguilera Olmos R, Nacher Fernández A, Vitoria Miñana I, Mezquita Edo C, Labordena Barceló C, Buesa Ibáñez E. Aguilera Olmos R, et al. An Esp Pediatr. 1983 Oct;19(4):339-41. An Esp Pediatr. 1983. PMID: 6419656 Spanish. No abstract available.
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
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
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J. Cano A, et al. Among authors: vitoria minana i. J Clin Med. 2021 Jun 30;10(13):2932. doi: 10.3390/jcm10132932. J Clin Med. 2021. PMID: 34208868 Free PMC article.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: vitoria minana i. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition.
González-Lamuño D, Arrieta-Blanco FJ, Fuentes ED, Forga-Visa MT, Morales-Conejo M, Peña-Quintana L, Vitoria-Miñana I. González-Lamuño D, et al. Among authors: vitoria minana i. Nutrients. 2023 Dec 30;16(1):135. doi: 10.3390/nu16010135. Nutrients. 2023. PMID: 38201964 Free PMC article. Review.
Cross-cultural adaptation to Spanish and content validity of three nutritional risk scales.
Balaguer López E, García-Molina P, Núñez F, Crehuá-Gaudiza E, Montal Navarro MÁ, Pedrón Giner C, Vitoria Miñana I, Jovaní Casano C, Galera Martínez R, Gómez-López L, Rodríguez Martínez G, Martínez-Costa C. Balaguer López E, et al. Among authors: vitoria minana i. An Pediatr (Engl Ed). 2022 Jul;97(1):12-21. doi: 10.1016/j.anpede.2022.06.001. Epub 2022 Jun 18. An Pediatr (Engl Ed). 2022. PMID: 35729061 Free article.
36 results