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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 1
2010 1
2013 1
2014 1
2015 2
2016 2
2017 2
2018 2
2019 1
2021 2
2022 1
2023 1
2024 0

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18 results

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Page 1
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: belmont martinez l. Int J Neonatal Screen. 2023 Oct 19;9(4):59. doi: 10.3390/ijns9040059. Int J Neonatal Screen. 2023. PMID: 37873850 Free PMC article.
Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.
Alcántara-Ortigoza MA, Hernández-Ochoa B, González-Del Angel A, Ibarra-González I, Belmont-Martínez L, Gómez-Manzo S, Vela-Amieva M. Alcántara-Ortigoza MA, et al. Among authors: belmont martinez l. Clin Biochem. 2022 Nov-Dec;109-110:64-73. doi: 10.1016/j.clinbiochem.2022.08.012. Epub 2022 Sep 8. Clin Biochem. 2022. PMID: 36089067
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
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, Belmont-Martínez L, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: belmont martinez l. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 Free PMC article.
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Belmont-Martínez L, López-Candiani C, Ibarra-González I. Vela-Amieva M, et al. Among authors: belmont martinez l. Orphanet J Rare Dis. 2021 Feb 26;16(1):103. doi: 10.1186/s13023-021-01693-9. Orphanet J Rare Dis. 2021. PMID: 33637102 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. Among authors: belmont martinez l. 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.
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M. Fernández-Lainez C, et al. Among authors: belmont martinez l. Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21. Brain Dev. 2018. PMID: 29685341
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. Among authors: belmont martinez l. 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
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. Among authors: belmont martinez l. Neuropathology. 2017 Dec;37(6):586-590. doi: 10.1111/neup.12404. Epub 2017 Aug 16. Neuropathology. 2017. PMID: 28815739
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. Among authors: belmont martinez l. 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.
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, Midgley JP, Ottolenghi C, Servais A, Soliman NA, Thoene JG, Levtchenko EN; Conference Participants. Langman CB, et al. Kidney Int. 2016 Jun;89(6):1192-203. doi: 10.1016/j.kint.2016.01.033. Kidney Int. 2016. PMID: 27181776 Free article.
18 results