Publicaciones en las que colabora con Luis Aldamiz-Echevarria Azuara (3)

2020

  1. Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2014

  1. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Orphanet journal of rare diseases, Vol. 9, pp. 187