Classic galactosemia: a zebrafish model and new clinical insights

Britt van Erven

Research output: ThesisDoctoral ThesisInternal

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Abstract

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.
Original languageEnglish
Awarding Institution
  • Maastricht University
Supervisors/Advisors
  • Stumpel, Constance, Supervisor
  • Rubio Gozalbo, Estela, Co-Supervisor
Award date10 Mar 2017
Place of PublicationMaastricht
Publisher
Print ISBNs9789461596673
DOIs
Publication statusPublished - 2017

Keywords

  • galactosemia
  • treatment

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