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Page 1
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Peña-Quintana L, Ruiz MA, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Clin Nutr. 2014 Aug;33(4):702-17. doi: 10.1016/j.clnu.2013.09.011. Epub 2013 Sep 26. Clin Nutr. 2014. PMID: 24120886
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C. Martín-Hernández E, et al. Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Orphanet J Rare Dis. 2014. PMID: 25433810 Free PMC article.
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
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.
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, La Roche F, Meavilla-Olivas S, Pérez-Cerdá C, García-Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T, Tugores A. Peña-Quintana L, et al. Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18. Clin Genet. 2017. PMID: 28255985
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F. Valayannopoulos V, et al. Orphanet J Rare Dis. 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2. Orphanet J Rare Dis. 2019. PMID: 30871635 Free PMC article.
99 results