Publicacións nas que colabora con Isidro Vitoria Miñana (16)

2018

  1. Protocolo de diagnóstico y tratamiento de las deficiencias de la β-oxidación mitocondrial de los ácidos grasos

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 43-66

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2015

  1. 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

  2. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  3. Micronutrient in hyperphenylalaninemia

    Data in Brief

  4. Phenylketonuria's impact on physical growth in a Spanish cohort

    Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48

  5. Vitamin and mineral status in patients with hyperphenylalaninemia

    Molecular Genetics and Metabolism, Vol. 115, Núm. 4, pp. 145-150

2013

  1. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

    Molecular Genetics and Metabolism, Vol. 109, Núm. 4, pp. 331-338