Publicacións en colaboración con investigadores/as de Hannover Medical School (5)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2022

  1. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    Communications Biology, Vol. 5, Núm. 1

2021

  1. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

    The Lancet Diabetes and Endocrinology, Vol. 9, Núm. 7, pp. 427-435

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115