Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (23)

2024

  1. Features Associated With Radiographic Pneumonia in Children with SARS-CoV-2

    Journal of the Pediatric Infectious Diseases Society, Vol. 13, Núm. 4, pp. 257-259

2023

  1. Impact of SARS-CoV-2 Infection on the Association Between Laboratory Tests and Severe Outcomes Among Hospitalized Children

    Open Forum Infectious Diseases, Vol. 10, Núm. 10

2022

  1. Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study

    Journal of Endocrinological Investigation

  2. Outcomes of SARS-CoV-2–Positive Youths Tested in Emergency Departments The Global PERN–COVID-19 Study

    JAMA Network Open, Vol. 5, Núm. 1, pp. E2142322

  3. Post-COVID-19 Conditions Among Children 90 Days After SARS-CoV-2 Infection

    JAMA Network Open, Vol. 5, Núm. 7, pp. E2223253

  4. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

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

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

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

  2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2018

  1. Evaluation and Impact of the "advanced Pediatric Life Support" Course in the Care of Pediatric Emergencies in Spain

    Pediatric Emergency Care, Vol. 34, Núm. 9, pp. 628-632

2017

  1. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

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. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo

    Anales de Pediatria, Vol. 74, Núm. 2, pp. 116-121

  2. Estudio OASIS: Manejo terapéutico de la acromegalia en un escenario de práctica clínica habitual. Evaluación de la eficacia de las diversas estrategias de tratamiento aplicadas

    Endocrinologia y Nutricion, Vol. 58, Núm. 9, pp. 478-486

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

  2. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

2008

  1. Estudio transversal español de crecimiento 2008. Parte II: Valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta

    Anales de Pediatria, Vol. 68, Núm. 6, pp. 552-569