Publicacións en colaboración con investigadores/as de Hospital Virgen del Camino (46)

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge

    Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205

2021

  1. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

  2. Pharmacogenetics of trough serum anti-TNF levels in paediatric inflammatory bowel disease

    British Journal of Clinical Pharmacology, Vol. 87, Núm. 2, pp. 447-457

2020

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

    Intensive Care Medicine

  2. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

    Parkinsonism and Related Disorders, Vol. 80, pp. 165-174

  3. Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey

    Respiratory Medicine, Vol. 170

  4. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

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

2018

  1. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

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. Circulating antibody 1 and 2 years after vaccination with the 13-valent pneumococcal conjugate vaccine in preterm compared with term infants

    Pediatric Infectious Disease Journal, Vol. 36, Núm. 3, pp. 326-332

  3. Metastatic neuroblastoma in infants: are survival rates excellent only within the stringent framework of clinical trials?

    Clinical and Translational Oncology, Vol. 19, Núm. 1, pp. 76-83

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

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

  5. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Changes in body mass index in girls with idiopathic central precocious puberty under gonadotropin-releasing hormone analogue therapy: The Spanish registry

    Hormone Research in Paediatrics, Vol. 86, Núm. 3, pp. 154-160

  2. ESPGHAN 2012 guidelines for Coeliac disease diagnosis: Validation through a retrospective Spanish multicentric study

    Journal of Pediatric Gastroenterology and Nutrition, Vol. 62, Núm. 2, pp. 284-291