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268 results

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Page 1
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Andrade F, et al. Among authors: couce ml. Pediatr Int. 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. Pediatr Int. 2015. PMID: 25851924 Review.
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.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. Among authors: couce ml. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. Among authors: couce ml. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
Cost-Effectiveness Methods and Newborn Screening Assessment.
Castilla-Rodríguez I, Vallejo-Torres L, Couce ML, Valcárcel-Nazco C, Mar J, Serrano-Aguilar P. Castilla-Rodríguez I, et al. Among authors: couce ml. Adv Exp Med Biol. 2017;1031:267-281. doi: 10.1007/978-3-319-67144-4_16. Adv Exp Med Biol. 2017. PMID: 29214578 Review.
268 results