LUIS
ALDÁMIZ-ECHEVARRÍA AZUARA
Forscher bis um 2020
Isidro
Vitoria Miñana
Publikationen, an denen er mitarbeitet Isidro Vitoria Miñana (12)
2018
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Enfermedades de depósito lisosomal: pautas de diagnóstico y tratamiento
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 291-300
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
2016
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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
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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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Micronutrient in hyperphenylalaninemia
Data in Brief
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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
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Vitamin and mineral status in patients with hyperphenylalaninemia
Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150
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
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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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Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338