Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2019 2
2020 1
2021 2
2022 1
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
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: lopez mejia l. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 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: lopez mejia 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.
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. Among authors: lopez mejia l. Children (Basel). 2023 Nov 28;10(12):1865. doi: 10.3390/children10121865. Children (Basel). 2023. PMID: 38136067 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. Among authors: lopez mejia l. 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. Among authors: lopez mejia 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.
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. Front Pediatr. 2024 Feb 19;12:1284671. doi: 10.3389/fped.2024.1284671. eCollection 2024. Front Pediatr. 2024. PMID: 38440183 Free PMC article.