MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Félix
Sánchez-Valverde Visus
Publikationen, an denen er mitarbeitet Félix Sánchez-Valverde Visus (9)
2019
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
2018
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Protocolo para el diagnóstico y tratamiento de tirosinemia tipo I
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 125-134
2017
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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project-A 2-year follow-up study
Medicine (United States), Vol. 96, Núm. 19
2016
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Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria
Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744
2015
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6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype
Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16
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Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]
Molecular Genetics and Metabolism
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Phenylketonuria's impact on physical growth in a Spanish cohort
Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48
2014
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Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717
2013
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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338