26 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-…
Based on the gaps in our knowledge (as stated above), we have formulated the following objectives:- To quantify the degree of hepatic fat accumulation and fibrosis in patients with HFI. - To gain more insight in the mechanism leading to NAFLD in…
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 objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
To investigate whether patients with VLCADD have a different energy metabolism compared to healthy controls.
The primary objectives are: 1. To assess BBB integrity in MPS IIIB patients by estimating the CSF AI.2. To determine the BBB transfer coefficient by DCE-MRI in MPS IIIB patients.The secondary objectives are: 1. To describe the relationship between…
1) To assess whether galactosemia women with ovarian failure are able to produce estradiol after exogenous (normally bioactive) FSH and LH gift 2) To characterize FSH glycan structures
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…
The aim of the study is to investigate insulin sensitivity in patients with an inborn mitochondrial disorder due to a defect in the oxidative phosphorylation (OXPHOS).
In this study we aim to elucidate which areas of speech are specifically affected in children and adolescents with classic galactosemia and to sketch a profile of the galactosemic patients* general cognitive functions.
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
(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,…
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…
The objective of this study is to further characterization the cholesterol pathways leading to storage of not only globotriaosylceramide (Gb3) en sphingomyelin (SM) in respectively Fabry disease and ASMD but also of storage of cholesterol in these…
1. To identify a biomarker of hepatic DNL in different disease models of NAFLD. 2. To assess the cardiovascular risk profile in the different disease models of NAFLD.
To survey the clinical and biochemical characteristics of individuals diagnosed with OCTN2, CPT2, CACT or BKT deficiency or suspected with OCTN2 deficiency after NBS in the Netherlands to aid the decision on whether or not to include these disorders…
Integrating genomic (WES/WGS) and other -omics technology in order to find the genetic cause, in 500 patients (children and adults) with an unexplained metabolic phenotype in whom standard care (genetic and metabolic evaluation) did not provide a…
(also see: C1. Protocol, page 9, paragraph 2)Primary: Creating a metabolic bio-database with body material of patients with inherited metabolic diseases, combined with clinical data.Secondary: Achieve better participation in national and…