8 results
Objective of this pilot study is to investigate differences in neuropsychological functioning between CAH patients and healthy controls. Differences in neuropsychological functioning may influence the quality of life and daily functioning of…
In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well
To determine whether different MR-based imaging techniques and FibroScan can be used for the purpose of identifying and monitoring Gaucher Disease patients at high risk of developing disease related liver complications.
Comparing fertilty of male galactosemia patients to a control group
Assessment of glucose homeostasis and endothelial function and glycocalyx status in 30 subjects with heterozygous mutations in EXT1 or EXT2 and 30 unaffected related controls.
1. to investigate whether the known chronic inflammatory and hyperoxidative state in patients with severely increased LDL is associated with dysfunctional HDL.2. to investigate whether CVD in FH is associated with dysfunctional HDL.
Objective: The primary objective of the study is to determine the effect of standard treatment with levothyroxine in TR*1 deficiency on:- Neutrophil and macrophage function- Erythropoiesis- Thyroid hormone target gene expression- Plasma metabolome
Primary objective:* To investigate the consequences of (recurrent) hypoglycaemia on inflammatory responsesSecondary objectives:* To study the atherogenic consequences of (recurrent) hypoglycaemia* To study the molecular mechanisms involved in the…