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Page 1
A large TAT deletion in a tyrosinaemia type II patient.
Legarda M, Wlodarczyk K, Lage S, Andrade F, Kim GJ, Bausch E, Scherer G, Aldamiz-Echevarria LJ. Legarda M, et al. Among authors: lage s. Mol Genet Metab. 2011 Nov;104(3):407-9. doi: 10.1016/j.ymgme.2011.05.009. Epub 2011 May 16. Mol Genet Metab. 2011. PMID: 21636300
Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures.
Prieto JA, Andrade F, Lage S, Aldámiz-Echevarría L. Prieto JA, et al. Among authors: lage s. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Apr 1;879(11-12):671-6. doi: 10.1016/j.jchromb.2011.01.031. Epub 2011 Feb 2. J Chromatogr B Analyt Technol Biomed Life Sci. 2011. PMID: 21377430
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. Among authors: lage s. 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
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. Among authors: lage s. 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. Among authors: lage s. 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
173 results