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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.
[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.
Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Ibarra-González I, Ridaura-Sanz C, Fernández-Lainez C, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. Ibarra-González I, et al. Adv Exp Med Biol. 2017;959:147-156. doi: 10.1007/978-3-319-55780-9_14. Adv Exp Med Biol. 2017. PMID: 28755193 Review.
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.
López-Corella E, Ibarra-González I, Fernández-Lainez C, Rodríguez-Weber MÁ, Guillén-Lopez S, Belmont-Martínez L, Agüero-Linares D, Vela-Amieva M. López-Corella E, et al. Neuropathology. 2017 Dec;37(6):586-590. doi: 10.1111/neup.12404. Epub 2017 Aug 16. Neuropathology. 2017. PMID: 28815739
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. Fernández-Lainez C, et al. Clin Chim Acta. 2018 Aug;483:33-38. doi: 10.1016/j.cca.2018.04.020. Epub 2018 Apr 16. Clin Chim Acta. 2018. PMID: 29673582
21 results