PhD conferral Ms drs. Britt van Erven

“Classic galactosemia: a zebrafish model and new clinical insights”

Keywords: galactosemia, treatment

Despite many years of research, there is still no effective treatment for classic galactosemia, a congenital metabolic disease. Patients develop damage to the ovaries, brain and bones, which leads to debilitating limitations. This PhD dissertation includes the development of a new animal model to obtain more knowledge about the disease and to develop new treatment strategies. It also includes new insights into the long-term limitations of the ovaries, brain and bones. These insights lead to recommendations for improving patient care and counselling.