Publicacións en colaboración con investigadores/as de Hospital Virgen del Camino (14)

2019

  1. Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800

  2. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  3. The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study

    Neonatology, Vol. 115, Núm. 4, pp. 348-354

  4. The impact of postnatal systemic steroids on the growth of preterm infants: A multicenter cohort study

    Nutrients, Vol. 11, Núm. 11

2017

  1. A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project-A 2-year follow-up study

    Medicine (United States), Vol. 96, Núm. 19

  2. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

    Human Mutation, Vol. 38, Núm. 6, pp. 678-691

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

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

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566