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Page 1
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: couce ml. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M. Couce ML, et al. Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Med Clin (Barc). 2011. PMID: 21752405 Spanish.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: couce ml. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20. Hum Mutat. 2017. PMID: 28244183
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. Among authors: couce ml. 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.
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.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M. Quijada-Fraile P, et al. Among authors: couce ml. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. Orphanet J Rare Dis. 2021. PMID: 34732228 Free PMC article.
Non-alcoholic fatty liver in hereditary fructose intolerance.
Aldámiz-Echevarría L, de Las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco-Alonso J, Concepción García M, Ruiz M, Suárez R, Andrade F, Villate O. Aldámiz-Echevarría L, et al. Among authors: couce ml. Clin Nutr. 2020 Feb;39(2):455-459. doi: 10.1016/j.clnu.2019.02.019. Epub 2019 Feb 15. Clin Nutr. 2020. PMID: 30833214 Free article.
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: couce ml. J Clin Med. 2021 Jun 30;10(13):2932. doi: 10.3390/jcm10132932. J Clin Med. 2021. PMID: 34208868 Free PMC article.
246 results