1) The complete picture of Tyrosinemia brain dysfunction (not only including IQ, but also executive functioning and development, social cognition, social functioning and behaviour) 2) Brain function of mice with Tyrosinemia type 1 Apart from the researches, we just initiated a project towards the development of European guidelines on the care and treatment of… Read more »
Published: June 2016 in Orphanet Journal of Rare Diseases
Article: First results of the research project investigating the cognitive development of patients with Tyrosinemia type 1
Authors: WG van Ginkel, R Jahja, SC Huijbregts, A Daly, A MacDonald, C de Laet, D Cassiman, F Eyskens, IM Körver-Keularts, PJ Goyens, PJ McKiernan, FJ van Spronsen
Contact: Wiggert van Ginkel/Rianne Jahja
Link to article: ncbi.nlm.nih.gov
Some years ago, there were questions on whether Tyrosinemia patients had impaired cognition. This was not restriced just to IQ. Other brain functions might have been impaired as well. Because of these issues, we started a large research project in many European countries investigating a wide range of brain functions and behaviour in Tyrosinemia type 1 patients. This was partly financed and made possible by the Tyrosinemia Foundation (previously known as Stichting Joris). In this first article, we tried to show all clinicians our results to make them aware of the importance of this issue.