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An exploratory matched case-control study to measure blood nutrient levels of adult PKU patients on a protein substitute.

The study*s main objective is to measure blood micro- and macronutrient and amino acid levels in adults with PKU on a protein substitute and compare with age- and sex-matched non-PKU comparison subjects.

Executive and social functioning in patients with Tyrosinemia Type 1

Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…

A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment naïve Patients with Late-onset Pompe Disease

The overall objective of this study is to evaluate the efficacy and safety of neoGAA in treatment-naïve patients with LOPD as compared to alglucosidase alfa, when this is administered biweekly for a period of 49 weeks. Also, there is an open-label…

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…

Study of gut microbiota profile in children with propionic acidemia

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