Publicaciones en colaboración con investigadores/as de Hospital Universitario Son Espases (19)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Nutrition recommendations for patients with pseudohypoparathyroidism

    Anales de Pediatria

  2. Pediatric renal lithiasis in Spain: research, diagnostic and therapeutic challenges, and perspectives

    Frontiers in Pediatrics, Vol. 11

2022

  1. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

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. Management and serious risk factors associated with unintentional injuries in paediatric emergencies in Spain

    Anales de Pediatria, Vol. 92, Núm. 3, pp. 132-140

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

  2. Prehospital management of acute childhood poisoning in Spain

    Emergencias, Vol. 29, Núm. 3, pp. 178-181

  3. Recommendations for the prevention of foreign body aspiration

    Anales de Pediatria, Vol. 86, Núm. 1, pp. 50.e1-50.e6

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2015

  1. Recommendations for the prevention of poisoning

    Anales de Pediatria, Vol. 83, Núm. 6, pp. 440.e1-440.e5

2014

  1. Recommendations for the prevention of drowning

    Anales de Pediatria, Vol. 82, Núm. 1, pp. 43.e1-43.e5

2011

  1. 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. 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

  2. The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): A major ATP-binding residue

    Diabetic Medicine, Vol. 27, Núm. 2, pp. 225-229

2003

  1. Deficiencia de la hormona de crecimiento en el adulto: Efectos del tratamiento sustitutivo sobre la composición corporal y la calidad de vida relacionada con la salud

    Medicina Clinica, Vol. 120, Núm. 2, pp. 41-46