Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Fe (16)

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

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

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. 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

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2017

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

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

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

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

2016

  1. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

  2. 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

  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

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