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Bone development and remodeling in metabolic disorders.
Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Serra-Vinardell J, et al. Among authors: vilageliu l. J Inherit Metab Dis. 2020 Jan;43(1):133-144. doi: 10.1002/jimd.12097. Epub 2019 Apr 29. J Inherit Metab Dis. 2020. PMID: 30942483 Review.
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Serra-Vinardell J, et al. Among authors: vilageliu l. Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30. Int J Biochem Cell Biol. 2014. PMID: 25084554
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Among authors: vilageliu l. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: vilageliu l. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
97 results