LUIS JOSE
ALDAMIZ-ECHEVARRIA AZUARA
Investigador/a en el periodo 2013-2020
Hospital Virgen del Camino
Pamplona, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Virgen del Camino (8)
2021
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414
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
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