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New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L, Cebolla JJ, Aldámiz-Echevarría L, de la Vega Á, Stanescu S, Lahoz C, Irún P, Giraldo P. López de Frutos L, et al. Among authors: giraldo p. Mol Biol Rep. 2020 Mar;47(3):2085-2095. doi: 10.1007/s11033-020-05308-7. Epub 2020 Feb 14. Mol Biol Rep. 2020. PMID: 32060698
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P. Andrade-Campos MM, et al. Among authors: giraldo p. Orphanet J Rare Dis. 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. Orphanet J Rare Dis. 2020. PMID: 32962737 Free PMC article.
Serum protein profile analysis in lysosomal storage disorders patients.
López de Frutos L, García-González E, García-Rodríguez B, González-Irazabal Y, Lahoz C, Irún P, Cebolla JJ, Giraldo P. López de Frutos L, et al. Among authors: giraldo p. Clin Chim Acta. 2020 Nov;510:430-436. doi: 10.1016/j.cca.2020.07.056. Epub 2020 Aug 1. Clin Chim Acta. 2020. PMID: 32745579
401 results