Publicacións en colaboración con investigadores/as de Leeds and York Partnership NHS Foundation Trust (7)

2019

  1. Diversity in the emergency care for febrile children in Europe: A questionnaire study

    BMJ Paediatrics Open, Vol. 3, Núm. 1

  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

  3. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  4. The natural history of classic galactosemia: Lessons from the GalNet registry

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

2018

  1. Mortality and morbidity in community-acquired sepsis in European pediatric intensive care units: A prospective cohort study from the European Childhood Life-threatening Infectious Disease Study (EUCLIDS)

    Critical Care, Vol. 22, Núm. 1

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2013

  1. Transcriptomic profiling in childhood H1N1/09 influenza reveals reduced expression of protein synthesis genes

    Journal of Infectious Diseases, Vol. 208, Núm. 10, pp. 1664-1668