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Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1.
López-Mejía L, Guillén-Lopez S, Vela-Amieva M, Santillán-Martínez R, Abreu M, González-Herrra MD, Díaz-Martínez R, Reyes-Magaña JG. López-Mejía L, et al. Among authors: vela amieva m. Front Pediatr. 2024 Feb 19;12:1284671. doi: 10.3389/fped.2024.1284671. eCollection 2024. Front Pediatr. 2024. PMID: 38440183 Free PMC article.
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.
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
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Fiesco-Roa MO, Fernández-Lainez C. Vela-Amieva M, et al. Front Genet. 2022 Oct 12;13:993612. doi: 10.3389/fgene.2022.993612. eCollection 2022. Front Genet. 2022. PMID: 36313470 Free PMC article.
A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.
Ibarra-González I, Fernández-Lainez C, Vela-Amieva M, Guillén-López S, Belmont-Martínez L, López-Mejía L, Carrillo-Nieto RI, Guillén-Zaragoza NA. Ibarra-González I, et al. Among authors: vela amieva m. Int J Neonatal Screen. 2023 Oct 19;9(4):59. doi: 10.3390/ijns9040059. Int J Neonatal Screen. 2023. PMID: 37873850 Free PMC article.
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C. Vela-Amieva M, et al. Children (Basel). 2023 Nov 28;10(12):1865. doi: 10.3390/children10121865. Children (Basel). 2023. PMID: 38136067 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