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Page 1
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: ugarte m. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
A new PKU mutation associated with haplotype 12.
Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Among authors: ugarte m. Hum Mol Genet. 1992 Dec;1(9):765-6. doi: 10.1093/hmg/1.9.765. Hum Mol Genet. 1992. PMID: 1363838 No abstract available.
A new case of succinyl-CoA: acetoacetate transferase deficiency.
Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, Hernández C, García MJ, Ugarte M. Pérez-Cerdá C, et al. Among authors: ugarte m. J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979. J Inherit Metab Dis. 1992. PMID: 1405472 No abstract available.
360 results