Publicaciones en colaboración con investigadoras/es de Hospital Miguel Servet (12)

2020

  1. New variants in Spanish Niemann–Pick type c disease patients

    Molecular Biology Reports, Vol. 47, Núm. 3, pp. 2085-2095

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

2019

  1. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2017

  1. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

    Medicina Clinica, Vol. 148, Núm. 9, pp. 429.e1-429.e10

2016

  1. 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

  2. Potential renoprotective effects of piceatannol in ameliorating the early-stage nephropathy associated with obesity in obese Zucker rats

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 555-566

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. 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

  1. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

    Clinical Nutrition, Vol. 33, Núm. 4, pp. 702-717

2013

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

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

2005

  1. Síntomas guía de las enfermedades lisosomales. Una orientación para el pediatra general

    Acta Pediatrica Espanola, Vol. 63, Núm. 6, pp. 243-247