106 results
Primary Objective: The painscores regarding abdominal pain among women with primary outflow obstruction in comparison with an age matched control group.Secondary Objective(s): The prevalence of sexual problems due to the congenital anomalies or the…
To investigate whether the peripheral nervous system is involved in paroxysmal neurological conditions.
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically-confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
To determine the appropriateness of scale content of the preliminary CLEFT-Q scales by age and culture and to identify unclear or ambiguous items, instructions and response options
To gain insight (1) into psychological functioning of couples where one partner is carrier of HD and who have PGD child(ren); and (2) into the family interactions in these families.
Screening of patients with the inherited liver disease Crigler-Najjar.
1. We will recruit 6 probands who experience cerebellar movement disorders with spinocerebellar ataxia features such as uncoordinated movement (i.e. asthenia, asynergy, delayed reaction time and dyschronometria) in limbs and organs such as the eyes…
Assessment of the cutaneous and retinal microcirculation in SCD patients and matched controls:- Long- and short-term repeatability of LSCI and NiRFI ;- Comparison of cutaneous and retinal microcirculation between SCD patients and matched healthy…
Primary Objective: The here described study aims to strengthen the recently obtained results regarding increased expression of PK antigen in patients with PK-deficiency. This will be achieved by increasing the number of investigated patients and…
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 aim of this research is to improve the understanding of the coagulation system through a detailed characterization and quantification of biosynthesis and expression of several coagulation proteins in BOECs. The data obtained in the study will be…
To determine the replication history of DS-B-lymphocytes by KRECs in relation to somatic hypermutation.
zie bovenstaand
This will be a pilot study that aims to gain insight into the effect of Gaucher disease on bone metabolism. For this purpose we formulated the following research questions:What is the effect of inflammatory factors in the serum of patients with…
The objective of the study is to be able to determine the contribution of blood inorganic phosphate to the signal observed in skeletal muscle.
To evaluate and obtain insight into psychological, social and moral factors in thoughts and attitudes of pregnant women and their partners carrying a fetus with an isolated CL ± P in order to improve counseling.
Objective: To analyze in more detail the complement activation and regulation and especially the functional CFH activity following three types of interventions in patients known with HUS and correlate these to clinical findings. The three…
Primary: To measure the effect of a high protein diet on whole body protein synthesis and -breakdown, as well as on net whole body protein balance and production of urea in children after cardiac surgerySecondary: To measure the effect of a high…
The main objective of the separate studies of this study is the evaluation of grasping performance when electrotactile or vibrotactile feedback is provided compared to the non-feedback and only visual feedback situation. The main question to be…
To evaluate the tissue-oxygenation and microcirculation before, during and after application of artificial pneumoperitoneum/-thorax using Near Infrared Spectroscopy (NIRS) and Sidestream Dark Field Imaging (SDF) and validate the usefulness of these…