15 results
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…
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
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…
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…
To establish the test-retest reliability of the 13C-PBT for measuring Phe hydroxylation in patients with PKU.
The aim of this study is to establish reference values for plasma oxalate and plasma glycolate levels in patients with chronic kidney insufficiency. Values in patients with PH and secondary hyperoxaluria will be compared to values measured in…
To investigate the prevalence and existence of orofacial abnormalities, in patients with Mucopolysaccharidoses and Mucolipidosis type II and III and how these abnormalities impair the quality of life.
Primary objective:To determine the prevalence of unrecognized mucopolysaccharidosis (MPS) I (Hurler, Hurler-Scheie, or Scheie syndromes), II (Hunter syndrome), IVA (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) patients among a population of…