Publicaciones en colaboración con investigadoras/es de Hospital Ramón y Cajal (32)

2023

  1. 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

2022

  1. Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers

    Cancer Epidemiology, Vol. 78

  2. Vitamin C and folate status in hereditary fructose intolerance

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

2021

  1. Oral immunotherapy in severe cow’s milk allergic patients treated with omalizumab: Real life survey from a Spanish registry

    Pediatric Allergy and Immunology, Vol. 32, Núm. 6, pp. 1287-1295

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

  2. New variants in Spanish Niemann–Pick type c disease patients

    Molecular Biology Reports, Vol. 47, Núm. 3, pp. 2085-2095

  3. Severe manifestations of SARS-CoV-2 in children and adolescents: from COVID-19 pneumonia to multisystem inflammatory syndrome: a multicentre study in pediatric intensive care units in Spain

    Critical care (London, England), Vol. 24, Núm. 1, pp. 666

  4. Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1

    International Journal of Molecular Sciences, Vol. 21, Núm. 22, pp. 1-18

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

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

2017

  1. An Activating Mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis

    Diabetes, Vol. 66, Núm. 4, pp. 1022-1029

  2. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Journal of Pediatrics, Vol. 189, pp. 72-78.e3

  3. Estudio multicéntrico español: Niños con hiperamoniemia no asociada a errors innatos del metabolismo

    Nutricion Hospitalaria, Vol. 34, Núm. 4, pp. 814-819

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

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

2016

  1. Consenso para el abordaje del asma grave pediátrica en la práctica clínica habitual

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 122e1-122e11

2014

  1. Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

    Arthritis and Rheumatology, Vol. 66, Núm. 10, pp. 2871-2880

  2. Predictive factors of severe multilobar pneumonia and shock in patients with influenza

    Emergency Medicine Journal, Vol. 31, Núm. 4, pp. 301-307

2013

  1. Risk factors and effectiveness of preventive measures against influenza in the community

    Influenza and other Respiratory Viruses, Vol. 7, Núm. 2, pp. 177-183

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Effectiveness of hand hygiene and provision of information in preventing influenza cases requiring hospitalization

    Preventive Medicine, Vol. 54, Núm. 6, pp. 434-439

  3. Prognosis of hospitalized patients with 2009 H1N1 influenza in Spain: Influence of neuraminidase inhibitors

    Journal of Antimicrobial Chemotherapy, Vol. 67, Núm. 7, pp. 1739-1745