31 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.
To compare the pharmacokinetic profile of uracil in cancer patients and healthy volunteers
the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…
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…
Diagnosis of patients with primary hyperoxaluria in a cohort of patients with recurrent urolithiasis.
The aim of the current study is to evaluate the added value of quantitative sensory testing and intraepidermal nerve fiber density in individuals with a AGAL deficiency and/or variation in the GLA gene of unknown clinical significance. These…
To test the reliability and validity of the IPMDS in children with mitochondrial disorders.
The aim of this study is to develop a better understanding of the clinical phenotype of LAL Deficiency/CESD phenotype to support the design and interpretation of planned clinical studies with SBC-102 and to inform and enhance the evaluation and care…
The purpose of this study concerns at a standardized way identifying the phenotype of patients with mt.3243A>G mutation, and relatives in the maternal line of patients with the mt.3243A>G mutation
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…
Since muscle biopsy is a invasive and risky operation, we hope to find a new way to diagnose mitochondrial disorders.
Since the first description of FPLD it is becoming increasingly evident that lipodystrophy is often misdiagnosed as diabetes with extreme insulin resistance. With this project, we want to find out the prevalence of lipodystrophy in patients with…
The objective is to get insight in the pathophysiology of small fibre neuropathy in Fabry patients. Insight in the pathophysiology will be obtained by:1. Describing results obtained by the QST protocol, skin biopsies and autonomic function tests in…
Primary Objectives: 1. To tailor and apply multi-parametric, functional MRI techniques to identify cerebral abnormalities (cerebral biomarkers) in MELAS patients.2. To investigate which cerebral biomarkers are shared and differ between MELAS…
Protocol optimization for the GAITRite in m.3243A>G carriers
Based on this background information and our preliminary data in this project we aim to perform longitudinal study in cystinosis patients to correlate clinical course under cysteamine therapy and 1) Markers of macrophage activation in patients…
The primary objectives of this project are to assess the mtDNA mutation load in carriers of a mtDNA mutation and identify patients and/or mutations with with no/low mtDNA mutation load in mesoangioblasts. Secondary objectives aim at determining the…