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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: flores lagunes 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
First family with Perry syndrome from Mexico.
Flores-Lagunes L, Del Pozo-Yauner L, Carrillo-Sánchez K, Molina-Garay C, Jiménez-Olivares M, Garcia-Solorio J, Rodríguez Corona U, Herrera GA, Ricardez-Marcial E, Alaez-Verson C. Flores-Lagunes L, et al. Biomed Rep. 2024 Jun 19;21(2):120. doi: 10.3892/br.2024.1808. eCollection 2024 Aug. Biomed Rep. 2024. PMID: 38978535 Free PMC article.
Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report.
Kazakova E, Téllez-Martínez JA, Flores-Lagunes L, Sosa-Ortiz AL, Carillo-Sánchez K, Molina-Garay C, González-Domínguez CA, Jimenez-Olivares M, Fernandez-Valverde F, Vargas-Cañas ES, Vázquez-Memije ME, Garcia-Latorre EA, Martínez-Duncker I, Alaez-Verson C. Kazakova E, et al. Among authors: flores lagunes l. Front Neurol. 2023 Jun 29;14:878446. doi: 10.3389/fneur.2023.878446. eCollection 2023. Front Neurol. 2023. PMID: 37456626 Free PMC article.