Publications in collaboration with researchers from University of Padua (3)

2026

  1. New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

    Journal of Internal Medicine, Vol. 299, Núm. 1, pp. 126-142

2018

  1. Priorities for future research into asthma diagnostic tools: A PAN-EU consensus exercise from the European asthma research innovation partnership (EARIP)

    Clinical and Experimental Allergy, Vol. 48, Núm. 2, pp. 104-120

2011

  1. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1