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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Among authors: ugarte m. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 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.
357 results