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Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico.
Mol Genet Metab Rep. 2019 Nov 13;21:100533. doi: 10.1016/j.ymgmr.2019.100533. eCollection 2019 Dec.
Mol Genet Metab Rep. 2019.
PMID: 31788423
Free PMC article.
Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
Ibarra-González I, Campos-Garcia FJ, Herrera-Pérez LDA, Martínez-Cruz P, Moreno-Graciano CM, Contreras-Capetillo SN, León-Burgos V, Maldonado-Solis FA, Alcántara-Ortigoza MA, González Del Angel A, Vela-Amieva M.
Ibarra-González I, et al. Among authors: moreno graciano cm.
J Med Screen. 2018 Sep;25(3):119-125. doi: 10.1177/0969141317722808. Epub 2017 Oct 9.
J Med Screen. 2018.
PMID: 28992757
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Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
Villegas-Ruiz V, Campos-Garcia FJ, Contreras-Capetillo S, Moreno-Graciano CM, Maldonado-Solis FA, Maldonado-Solis MA, Zenteno JC.
Villegas-Ruiz V, et al. Among authors: moreno graciano cm.
Clin Biochem. 2015 Dec;48(18):1273-6. doi: 10.1016/j.clinbiochem.2015.07.015. Epub 2015 Jul 10.
Clin Biochem. 2015.
PMID: 26169240
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