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Page 1
Vitamin C and folate status 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, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J. Cano A, et al. Eur J Clin Nutr. 2022 Dec;76(12):1733-1739. doi: 10.1038/s41430-022-01178-3. Epub 2022 Jul 19. Eur J Clin Nutr. 2022. PMID: 35854131 Free PMC article.
Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.
Pedrón-Giner C, Navas-López VM, Martínez-Zazo AB, Martínez-Costa C, Sánchez-Valverde F, Blasco-Alonso J, Moreno-Villares JM, Redecillas-Ferreiro S, Canals-Badía MJ, Rosell-Camps A, Gil-Ortega D, Gómez-López L, García-Romero R, Gutierrez-Junquera C, Balmaseda-Serrano EM, Bousoño-García C, Marugán-Miguelsanz JM, Peña-Quintana L, González-Santana D, López-Ruzafa E, Chicano-Marín FJ, Cabrera-Rodriguez R, Murray-Hurtado M, Pérez-Moneo B. Pedrón-Giner C, et al. Eur J Clin Nutr. 2013 Apr;67(4):318-23. doi: 10.1038/ejcn.2013.8. Epub 2013 Feb 6. Eur J Clin Nutr. 2013. PMID: 23388671
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Peña-Quintana L, Ruiz MA, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Clin Nutr. 2014 Aug;33(4):702-17. doi: 10.1016/j.clnu.2013.09.011. Epub 2013 Sep 26. Clin Nutr. 2014. PMID: 24120886
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.
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Llarena M, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Mol Genet Metab. 2015 May;115(1):10-6. doi: 10.1016/j.ymgme.2015.03.007. Epub 2015 Apr 1. Mol Genet Metab. 2015. PMID: 25882749
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML. Aldámiz-Echevarría L, et al. J Hum Genet. 2016 Aug;61(8):731-44. doi: 10.1038/jhg.2016.38. Epub 2016 Apr 28. J Hum Genet. 2016. PMID: 27121329 Free article.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
Andrade F, Vitoria I, Martín Hernández E, Pintos-Morell G, Correcher P, Puig-Piña R, Quijada-Fraile P, Peña-Quintana L, Marquez AM, Villate O, García Silva MT, de Las Heras J, Ceberio L, Rodrigues E, Almeida Campos T, Yahyaoui R, Blasco J, Vives-Piñera I, Gil D, Del Toro M, Ruiz-Pons M, Cañedo E, Barba Romero MA, García-Jiménez MC, Aldámiz-Echevarría L. Andrade F, et al. J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. J Pharm Biomed Anal. 2019. PMID: 31394303
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C. Couce ML, et al. Medicine (Baltimore). 2019 Sep;98(39):e17303. doi: 10.1097/MD.0000000000017303. Medicine (Baltimore). 2019. PMID: 31574857 Free PMC article.
99 results