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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.
Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B. Yahyaoui R, et al. Among authors: andrade f. J Inherit Metab Dis. 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. Epub 2019 Feb 21. J Inherit Metab Dis. 2019. PMID: 30671984
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: andrade f. 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
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.
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. Among authors: andrade f. 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.
1,125 results