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Residual galactose oxidation capacity and galactosylation abnormalities as possible predictors for galactose tolerance and outcome in patients with galactose-1-phosphate uridyltransferase deficiency

The objective of this study is to investigate the association of the residual galactose oxidation capacity (measured in vivo and in vitro) and of galactosylation abnormalities with outcome in patients with galactosemia.

Assessment of endogenous oxalate production and investigation of glyoxylate/oxalate pathways in primary hyperoxaluria patients and healthy subjects

Primary: Quantification of oxalate and glycine production in both healthy subjects and PH patients in order to obtain reference values for clinical trials.Secondary: To obtain more insight in the glyoxylate/oxalate pathway, and in particular the…