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Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Jumbo-Lucioni PP, et al. J Inherit Metab Dis. 2012 Nov;35(6):1037-49. doi: 10.1007/s10545-012-9477-y. Epub 2012 Mar 27. J Inherit Metab Dis. 2012. PMID: 22450714 Free PMC article.
[Characterization of inborn errors of intermediary metabolism in mexican patients].
Ibarra-González I, Fernández-Lainez C, Belmont-Martínez L, Guillén-López S, Monroy-Santoyo S, Vela-Amieva M. Ibarra-González I, et al. An Pediatr (Barc). 2014 May;80(5):310-6. doi: 10.1016/j.anpedi.2013.09.003. Epub 2013 Oct 17. An Pediatr (Barc). 2014. PMID: 24140120 Free article. Spanish.
Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.
Ibarra-González I, Fernández-Lainez C, Guillén-López S, López-Mejía L, Belmont-Matínez L, Sokolsky TD, Amin VR, Kitchener RL, Vela-Amieva M, Naylor EW, Bhattacharjee A. Ibarra-González I, et al. Clin Chim Acta. 2020 Feb;501:216-221. doi: 10.1016/j.cca.2019.10.041. Epub 2019 Nov 9. Clin Chim Acta. 2020. PMID: 31707166
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I, Fernández-Lainez C, Alcántara-Ortigoza MA, González-Del Angel A, Fernández-Henández L, Guillén-López S, Belmont-Martínez L, López-Mejía L, Varela-Fascinetto G, Vela-Amieva M. Ibarra-González I, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e937. doi: 10.1002/mgg3.937. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568711 Free PMC article.
Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series.
Medina-Torres EA, Vela-Amieva M, Galindo-Campos L, Ibarra-González I, Espinosa-Padilla S, Guillén-López S, López-Mejía L, Fernández-Lainez C. Medina-Torres EA, et al. Allergol Immunopathol (Madr). 2021 Jan 2;49(1):101-106. doi: 10.15586/aei.v49i1.27. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33528936
66 results