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Martinez-Romero MC, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Serrano-Anton AT, Barreda-Sanchez M, Rodriguez-Pena L, Martinez-Menchon MT, Frias-Iniesta J, Sanchez-Pedreno P, Carbonell-Meseguer P, Glover-Lopez G, Guillen-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. PubMed PMID: 31796081; PubMed Central PMCID: PMC6892193.
AÑO: 2019; IF: 3.523
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31796081
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Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. PubMed PMID: 31427717; PubMed Central PMCID: PMC6700087.
AÑO: 2019; IF: 3.998
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de la Morena-Barrio ME, Ballesta-Martínez MJ, López-Gálvez R, Antón AI, López-González V, Martínez-Ribot L, Padilla J, Miñano A, García-Algar O, Del Campo M, Corral J, Guillén-Navarro E, Vicente V. Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation. Pediatr Res. 2018 Jan;83(1-1):119-127. doi: 10.1038/pr.2017.201. Epub 2017 Sep 20. PubMed PMID: 28820871.
AÑO: 2018; IF: 2.88
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Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program. Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun. PubMed PMID: 30023300; PubMed Central PMCID: PMC6047108.
AÑO: 2018
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Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3. PubMed PMID: 29725868; PubMed Central PMCID: PMC6326957.
AÑO: 2018; IF: 4.287
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