Publicacións en colaboración con investigadores/as de University of Naples Federico II (6)

2024

  1. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2023

  1. Lung UltrasouNd Guided surfactant therapy in preterm infants: an international multicenter randomized control trial (LUNG study)

    Trials, Vol. 24, Núm. 1

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

  2. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

2018

  1. Prevalence of Functional Gastrointestinal Disorders in Children and Adolescents in the Mediterranean Region of Europe

    Clinical Gastroenterology and Hepatology, Vol. 16, Núm. 6, pp. 870-876

2005

  1. Mutation of the PIK3CA gene in anaplastic thyroid cancer

    Cancer Research, Vol. 65, Núm. 22, pp. 10199-10207