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Page 1
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
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC article.
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML. Aldámiz-Echevarría L, et al. J Hum Genet. 2016 Aug;61(8):731-44. doi: 10.1038/jhg.2016.38. Epub 2016 Apr 28. J Hum Genet. 2016. PMID: 27121329 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
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.
43 results