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A glimpse into past, present, and future DNA sequencing.
Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Morey M, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. Mol Genet Metab. 2013. PMID: 23742747 Review.
Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].
Couce ML, Dolores Bóveda M, García-Jimémez C, Balmaseda E, Vives I, Castiñeiras DE, Fernández-Marmiesse A, Fraga JM, Mudd SH, Corrales FJ. Couce ML, et al. Mol Genet Metab. 2015 Mar;114(3):486. doi: 10.1016/j.ymgme.2015.01.011. Epub 2015 Feb 11. Mol Genet Metab. 2015. PMID: 25877476 No abstract available.
Vitamin and mineral status in patients with hyperphenylalaninemia.
Crujeiras V, Aldámiz-Echevarría L, Dalmau J, Vitoria I, Andrade F, Roca I, Leis R, Fernandez-Marmiesse A, Couce ML. Crujeiras V, et al. Mol Genet Metab. 2015 Aug;115(4):145-50. doi: 10.1016/j.ymgme.2015.06.010. Epub 2015 Jun 27. Mol Genet Metab. 2015. PMID: 26123187
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C. Couce ML, et al. J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1. J Hum Genet. 2017. PMID: 27904153
43 results