MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Amaya
Bélanger Quintana
Publikationen, an denen er mitarbeitet Amaya Bélanger Quintana (9)
2023
2022
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2019
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2017
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
2014
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Orphanet journal of rare diseases, Vol. 9, pp. 187
2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study
Pediatrics, Vol. 131, Núm. 6
2010
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Management of phenylketonuria in Europe: Survey results from 19 countries
Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115