Publicacións en colaboración con investigadores/as de Hospital Universitario Pío del Río Hortega (33)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  3. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  4. Nutrition in congenital heart disease: Consensus document

    Anales de Pediatria, Vol. 98, Núm. 5, pp. 373-383

2022

  1. A genome-wide association study of survival in patients with sepsis

    Critical Care, Vol. 26, Núm. 1

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

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

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

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

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

  2. Predictors of response to exclusive enteral nutrition in newly diagnosed crohn’s disease in children: PRESENCE Study from SEGHNP

    Nutrients, Vol. 12, Núm. 4

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

  2. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  3. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

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. Vertically transmitted cytomegalovirus infection in newborn preterm infants

    Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490

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