36 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 main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
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…
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…
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.
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 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 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…
Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).
In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…
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.
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. What proportion of X-ALD carriers have symptoms en what are those symptoms (as evaluated by history, neurologic examination and electrophysiology)?2. At what age did symptoms fist manifest themselves and how is the progression of those symtpoms?3…
We therefore set out to study the relationship of LCAT with atherosclerosis using 3.0 Tesla MRI mean wall area (MWA) measurements of the carotid arteries as a marker for atherosclerosis in a cohort of LCAT mutation carriers and compare them to…
The first aim of this study is to extend clinical knowledge on Sanfilippo syndrome. This has several important reasons:*Clinical knowledge helps the physician to provide better care to patients diagnosed with this incurable disease and to counsel…