Publicacións (10) Publicacións nas que participase algún/ha investigador/a

filter_list Biochemistry (medical)

2021

  1. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  2. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

  3. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Effects of prebiotic and probiotic supplementation on lactase deficiency and lactose intolerance: A systematic review of controlled trials

    Nutrients, Vol. 12, Núm. 5

  2. Identification of a novel variant in EARS2 associated with a severe clinical phenotype expands the clinical spectrum of LTBL

    Genes, Vol. 11, Núm. 9, pp. 1-10

2018

  1. Carbohydrate status in patients with phenylketonuria

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

2017

  1. Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

    Medicine (United States), Vol. 96, Núm. 27

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. Vitamin and mineral status in patients with hyperphenylalaninemia

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

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6