Publicaciones en colaboración con investigadoras/es de Hospital Virgen del Camino (54)

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. Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

    Neurologia, Vol. 38, Núm. 2, pp. 93-105

2022

  1. Clinical spectrum of COVID-19 and risk factors associated with severity in Spanish children

    European journal of pediatrics, Vol. 181, Núm. 3, pp. 1105-1115

  2. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

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

    Cancer Epidemiology, Vol. 78

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

2020

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

    Intensive Care Medicine

  2. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma

    Blood, Vol. 135, Núm. 4, pp. 274-286

2019

  1. Adherence and long-term outcomes of growth hormone therapy with easypod™ in pediatric subjects: Spanish ecos study

    Endocrine Connections, Vol. 8, Núm. 9, pp. 1240-1249

  2. Burkitt-like lymphoma with 11q aberration: A germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma

    Haematologica, Vol. 104, Núm. 9, pp. 1822-1829

  3. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  4. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  5. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2017

  1. Down syndrome as risk factor for respiratory syncytial virus hospitalization: A prospective multicenter epidemiological study

    Influenza and other Respiratory Viruses, Vol. 11, Núm. 2, pp. 157-164

  2. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

  3. Quality of life in home-ventilated children and their families

    European Journal of Pediatrics, Vol. 176, Núm. 10, pp. 1307-1317

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

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. GEMA 4.0 Spanish guidelines of the management of Asthma

    Journal of Investigational Allergology and Clinical Immunology

  2. 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

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