40 results
(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…
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…
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…
The objective of the study is to be able to determine the contribution of blood inorganic phosphate to the signal observed in skeletal muscle.
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.
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 investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…
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…
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-…
(also see: C1. Protocol, page 12, paragraph 2)Primary Objective:Improving risk assessment of acute porphyric attacks and complications in patients with acute porphyria.Secondary Objectives: 1. Obtain and describe basic demographics and statistics,…
Protocol optimization for the GAITRite in m.3243A>G carriers
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…
We would like to evaluate the beneficial effects of fibrate treatment on muscle mitochondrial and cardiac function in patients with NLSDM.
To evaluate the prevalence of femoral head pathology in patients with MPS III.
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 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…
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…