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Case report of renal tubular acidosis and misdiagnosed.
Medeiros M, Enciso S, Hernández AM, García Hernández HR, Toussaint G, Pinto C, Navarrete Rodríguez EM, Del-Rio-Navarro BE, Saucedo-Ramírez OJ, Medina Bravo P, Miranda S, Worona L, Sosa G, Belmont Martinez L, Alcántara Ortigoza MÁ, Escobar L, Muñoz Arizpe R. Medeiros M, et al. Among authors: alcantara ortigoza ma. Nefrologia. 2016 May-Jun;36(3):323-5. doi: 10.1016/j.nefro.2015.10.012. Epub 2016 Feb 5. Nefrologia. 2016. PMID: 26857205 Free article. English, Spanish. No abstract available.
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: alcantara ortigoza ma. 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.
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: alcantara ortigoza ma. 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.
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: alcantara ortigoza ma. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 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. 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
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: alcantara ortigoza ma. 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
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Reyna-Fabián ME, Alcántara-Ortigoza MA, Hernández-Martínez NL, Berumen J, Jiménez-García R, Gómez-Garza G, González-Del Angel A. Reyna-Fabián ME, et al. Among authors: alcantara ortigoza ma. Nefrologia (Engl Ed). 2020 Jan-Feb;40(1):91-98. doi: 10.1016/j.nefro.2019.03.003. Epub 2019 Jun 5. Nefrologia (Engl Ed). 2020. PMID: 31176519 Free article. English, Spanish.
62 results