7 results
(i) To compare the DBF response to capsaicin between cystinosis patients, homozygous and heterozygous for the 57-kb deletion, and matched controls.(ii) To compare the skin sensitivity response after capsaicin application between cystinosis patients,…
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
- To evaluate the demographic, clinical and genetic characteristics of all known patients with a diagnosis of cystinuria and cystine nephrolithiasis in the Netherlands.- To evaluate the relationship between genotype and phenotype of all known…
THE KIMONO-STUDY is designed to study the consequences of having an SFK from childhood. Furthermore, a tailor made risk profil will be designed for children with an SFK, based on individual risk factor (for example co-morbidity, genetic aberrations…
The main objective of the study is to construct reference curves for fetal bladder diameters and volume in the second and third trimester of pregnancy. Moreover we will investigate the variation in the dimensions of renal pelvis in relation to the…
The main objective is to investigate whether the variant indeed cause mitochondrial dysfunction leading to the observed phenotype, including characterization of the pathophysiology.
Primary objective is to design a non-invasive, bedside monitoring strategy for early detection of renal graft hypoperfusion after pediatric kidney transplantation, using transabdominal ultrasonography and biomarker surveillance in serum and urine.…