Publicacións en colaboración con investigadores/as de Hospital Universitari Germans Trias i Pujol (7)

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2018

  1. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

    Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120

2015

  1. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)

    Journal of Inherited Metabolic Disease

  2. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074

2012

  1. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

    Molecular Genetics and Metabolism, Vol. 106, Núm. 2, pp. 196-201

2010

  1. Recommendations and management of type i hereditary or hepatorenal tyrosinemia

    Anales de Pediatria, Vol. 73, Núm. 5

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566