Publicacións en colaboración con investigadores/as de Hospital Infanta Cristina (9)

2022

  1. Spanish National Registry of Paediatric Coeliac Disease: Changes in the Clinical Presentation in the 21st Century

    Journal of pediatric gastroenterology and nutrition, Vol. 74, Núm. 6, pp. 805-811

2021

  1. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

    Genes, Vol. 12, Núm. 5

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. 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

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

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

2010

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

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

1997

  1. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

    European Journal of Human Genetics, Vol. 5, Núm. 4, pp. 196-202