Guillem Pintos-Morell

Summary

Publications

  1. pmc Recommendations for the management of tyrosinaemia type 1
    Corinne De Laet
    Nutrition and Metabolism Unit, Department of Pediatrics, University Children s Hospital Queen Fabiola, Brussels, Belgium
    Orphanet J Rare Dis 8:8. 2013
  2. pmc Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
    Uma Ramaswami
    The Willink Biochemical Genetics Unit, Genetic Medicine, St Mary s Hospital, Manchester, UK
    Health Qual Life Outcomes 10:116. 2012
  3. pmc Fabry disease in children and the effects of enzyme replacement treatment
    Guillem Pintos-Morell
    Department of Pediatrics, University Hospital Germans Trias i Pujol Badalona, Universitat Autonoma de Barcelona, Catalonia, Spain
    Eur J Pediatr 168:1355-63. 2009

Collaborators

  • Michael Beck
  • Corinne De Laet
  • Uma Ramaswami
  • Helene Ogier de Baulny
  • Patrick McKiernan
  • Carlo Dionisi-Vici
  • Lidia Monti
  • Ute Spiekerk├Âtter
  • Grant Mitchell
  • James V Leonard
  • Gisela Kalkum
  • Wen Hung Chen
  • Ingela Wiklund
  • Marianne Rohrbach
  • Catharina Whybra
  • Donald E Stull
  • Mireia Raluy-Callado
  • Rossella Parini

Detail Information

Publications3

  1. pmc Recommendations for the management of tyrosinaemia type 1
    Corinne De Laet
    Nutrition and Metabolism Unit, Department of Pediatrics, University Children s Hospital Queen Fabiola, Brussels, Belgium
    Orphanet J Rare Dis 8:8. 2013
    ..The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management...
  2. pmc Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
    Uma Ramaswami
    The Willink Biochemical Genetics Unit, Genetic Medicine, St Mary s Hospital, Manchester, UK
    Health Qual Life Outcomes 10:116. 2012
    ..Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists...
  3. pmc Fabry disease in children and the effects of enzyme replacement treatment
    Guillem Pintos-Morell
    Department of Pediatrics, University Hospital Germans Trias i Pujol Badalona, Universitat Autonoma de Barcelona, Catalonia, Spain
    Eur J Pediatr 168:1355-63. 2009
    ..Follow-up of these cohorts and additional studies will be necessary to fully evaluate long-term efficacy of ERT in children with Fabry disease...