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New CTSA mutation in early infantile galactosialidosis.
Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ. Aldámiz-Echevarría L, et al. Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10. Pediatr Int. 2018. PMID: 29987886 No abstract available.
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Andrade F, et al. Pediatr Int. 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. Pediatr Int. 2015. PMID: 25851924 Review.
Non-alcoholic fatty liver in hereditary fructose intolerance.
Aldámiz-Echevarría L, de Las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco-Alonso J, Concepción García M, Ruiz M, Suárez R, Andrade F, Villate O. Aldámiz-Echevarría L, et al. Clin Nutr. 2020 Feb;39(2):455-459. doi: 10.1016/j.clnu.2019.02.019. Epub 2019 Feb 15. Clin Nutr. 2020. PMID: 30833214 Free article.
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
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
102 results