14 results
Primary Objective: To further optimize the IPMDSSecondary Objective(s): To determine in which age-groups the items within the IPMDS are appropriate To determine whether the IPMDS can assessed reliably by research nurses, students and physician…
Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…
To evaluate the prevalence of femoral head pathology in patients with MPS III.
The objective of the study is to be able to determine the contribution of blood inorganic phosphate to the signal observed in skeletal muscle.
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
To determine the prevalence of α-Galactosidase A deficiency in male patients presenting with renal failure, proteinuria or micro-albuminuria of unknown cause, at the outpatient clinic of the department of internal medicine of a large teaching…
Protocol optimization for the GAITRite in m.3243A>G carriers
The aim of this study is to optimize the protocol for gait analysis for children with mitochondrial diseasesSecundary- feasibility- reliability- reliability after exercise- compare with healthy controls- reference values for children
To explore, whether markers of mitochondrial dysfunction measured in isolated PBMCs or immune cell subpopulations differ between subjects with mitochondrial disorders and cardiomyopathy and healthy volunteers.
With this study, we aim to gain insight in the influence of dietary oxalate on urinary oxalate levels by quantification of the intestinal oxalate absorption in patients with recurrent idiopathic calcium oxalate stones, primary hyperoxaluria, and…
To evaluate Hex4 concentrations in CSF from patients with infantile-onset (IOPD) and late-onset (LOPD) Pompe disease
The objective of this study is to identify and develop laboratory measurements and other tests that may help develop treatments for Hunter Syndrome and, potentially, related diseases. The information learned from this study may also help doctors,…
The aim of the Survey is to better understand the variability and progression of Pompe disease and to continue to monitor and evaluate the long-term effects of available treatment options and support measures including ERT with alglucosidase alpha…
We aim to define components which are critical for lysosomal homeostasis and are affected in CLN3 disease. To this end we will perform multi-omics analysis of lysosomes isolated from fresh peripheral white blood mononuclear cells (PBMCs) of…