Willem Van Ginkel practices in Groningen, Netherlands. Van Ginkel is rated as an Elite expert by MediFind in the treatment of Tyrosinemia Type 3. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are Tyrosinemia Type 1, Tyrosinemia Type 3, Tyrosinemia Type 2, and Hepatorenal Syndrome.
Francjan Van Spronsen practices in Groningen, Netherlands. Van Spronsen is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 3. They are also highly rated in 19 other conditions, according to our data. Their top areas of expertise are Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Tyrosinemia Type 3, and Tyrosinemia Type 2.
Anita Macdonald practices in Birmingham, United Kingdom. Macdonald is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 3. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Dihydropteridine Reductase Deficiency, Phenylketonuria (PKU), Inborn Amino Acid Metabolism Disorder, Colostomy, and Liver Embolization.
Summary: 10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian. All participants will enter a 4-week evaluation period, assessing adherence and gastrointestinal tolerance. Evaluations of Tyr sphere's palatability are made at the end of the evaluation period. Dried blood spots are taken on da...
Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center