M. Haskovic

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

A. Krumeich, G. de Wert, M. Rubio-Gozalbo, 2018, Journal of Inherited Metabolic Disease.

The natural history of classic galactosemia: lessons from the GalNet registry

S. Waisbren, M. Hochuli, S. Wortmann, 2019, Orphanet Journal of Rare Diseases.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

S. Waisbren, G. Berry, H. Levy, 2019, Molecular genetics and metabolism.

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia

L. Zimmermann, D. Lefeber, P. Martini, 2022, Journal of inherited metabolic disease.

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

J. Bierau, M. Lindhout, D. Lefeber, 2020, Journal of inherited metabolic disease.

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

L. Zimmermann, J. Bierau, G. Berry, 2019, Journal of inherited metabolic disease.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

W. Yue, L. V. van Loon, J. Bierau, 2018, Orphanet Journal of Rare Diseases.