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Page 1
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
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.
New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.
Bueno MA, Lage S, Delgado C, Andrade F, Couce ML, González-Lamuño D, Pérez M, Aldámiz-Echevarría L. Bueno MA, et al. Metabolism. 2012 Dec;61(12):1809-16. doi: 10.1016/j.metabol.2012.07.015. Epub 2012 Aug 24. Metabolism. 2012. PMID: 22921945
Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338].
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Llarena M, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Mol Genet Metab. 2015 Mar;114(3):485. doi: 10.1016/j.ymgme.2015.01.010. Epub 2015 Feb 12. Mol Genet Metab. 2015. PMID: 25877475 No abstract available.
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Llarena M, 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. Aldámiz-Echevarría L, et al. Mol Genet Metab. 2015 May;115(1):10-6. doi: 10.1016/j.ymgme.2015.03.007. Epub 2015 Apr 1. Mol Genet Metab. 2015. PMID: 25882749
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
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C. Couce ML, et al. Medicine (Baltimore). 2019 Sep;98(39):e17303. doi: 10.1097/MD.0000000000017303. Medicine (Baltimore). 2019. PMID: 31574857 Free PMC article.
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Llarena M, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Mol Genet Metab. 2013 Aug;109(4):331-8. doi: 10.1016/j.ymgme.2013.05.017. Epub 2013 Jun 4. Mol Genet Metab. 2013. PMID: 23810227
101 results