49 results
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
(Primary) Determine whether measuring the expression level is a good functional test for confirming the genetic diagnosis in IRIDA by establishing the relation between the TMPRSS6 mRNA expression and the phenotype in IRIDA patients and their family…
The following research questions were formulated:• Does blood group P status (presence or absence of the 42C>T-SNP) correlate to GB3 content on fibroblasts and white blood cells of healthy controls?• Does blood group P status correlate to (…
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
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 purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
Diagnosis of patients with primary hyperoxaluria in a cohort of patients with recurrent urolithiasis.
The primary aim of the present protocol is to determine the role of chenodeoxycholate for postprandial GLP-1 responses (and the resulting metabolic consequences) in humans.
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
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…
We would like to study whether aberrant heparansulfate synthesis in HME subjects leads to impaired glucose metabolism, dyslipidemia and subsequent increased cardiovascular risk as well as impaired adrenal gland function when compared to unaffected…
We would like to evaluate the beneficial effects of fibrate treatment on muscle mitochondrial and cardiac function in patients with NLSDM.
To test the reliability and validity of the IPMDS in children with mitochondrial disorders.
To investigate whether single dosis of fecal therapy by infusion of allogeneic (post bariatric surgery donor feces in the bowel) or autologous (own feces) have differential effect on lipid-metabolism-mediated insulin resistance.
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 main objective: to evaluate the prescribed intake of micronutrients and fatty acids from natural protein and amino acid mixtures, and to correlate it to blood levels of these micronutrients and fatty acids, in patients with PKU. Secondary…
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 frequency of symptoms and signs of a neuromuscular disorder (myopathy, neuropathy) in patients with haemochromatosis. To evaluate in these patients the impact of these symptoms and signs on the quality of life. To assess in patients…
To determine, by measuring cIMT's, whether the abnormal lipid profile of GD I carriers and patients is associated with atherosclerosis and an increased risk of CAD.