PhD conferral Ms drs. Britt van Erven
Supervisor: prof.dr. C.T.R.M. Stumpel
Co-supervisor: dr. M.E. Rubio-Gozalbo
“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.
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