7 results
The aim of this study is to determine novel (bio)markers that show a stronger correlation with signs of over- and under-treatment than the conventional adrenal steroid profile in children with CAH.
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…
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.
The primary objective is to determine if disease associated lesions in patients with VHLD can be visualized with 89Zr-bevacizumab PET scans. Secondary objectives are to explore if 89Zr-bevacizumab PET imaging can differentiate progressive from non-…
Comparing fertilty of male galactosemia patients to a control group
The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify for surgery based on response…
The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify forsurgery based on response…