Publicacións en colaboración con investigadores/as de University of Amsterdam (6)

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. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2019

  1. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6

2012

  1. Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

    Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049

  2. Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)

    Journal of Inherited Metabolic Disease