287 results
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…
• to describe the epidemiological trends of dengue infections imported to Europe by returning travelers• to describe the full clinical spectrum of dengue disease imported to Europe by returning travelers• to report the phylogeny, selection pressure…
The objective of this study is to learn from young people with a chronic illness (diabetes or progressive muscular disease) who have found a balance between taking good care of their illness and having a good life. This study examines how these…
Objectives are: A. to assess the incidence of ABI in children and youth (up to 25 years of age). B. to describe the consequences of ABI, restrictions in participation and health care needs 2 years post-onset, as well as associated factors.
To determine the replication history of DS-B-lymphocytes by KRECs in relation to somatic hypermutation.
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…
zie bovenstaand
The goal of this pilot family study is to test the feasibility of a family study in which both genetic and behavioral measures are studied. We hope to shed more light on the genetic factors and environmental influences that play a role in the…
The first aim of this study is to extend clinical knowledge on NPC. This has several reasons:1) The heterogeneous clinical presentation of NPC makes extensive clinical knowledge amongst physicians a prerequisite in preventing diagnostic delay.…
To evaluate the bowel function, quality of life and nutritional status in adolescents/adults who experienced an episode of NEC at neonatal age.
The aim of this study is to examine the neural correlates of landmark processing in children and adolescents. We are particularly interested in the developmental trajectory of a specific brain network that automatically distinguishes between…
1) To perform gene mutation analysis in family members of patients carrying a proven mutation in the candidate gene.2) To determine the clinical, biochemical and radiological characteristics of carriers of a mutation in the candidate gene.3) To…
The aim of the present study is to investigate the reproducibility of upper extremity strength measurements in children with CP. The following strength measurement instruments will be studied: Hand Held Dynamometry (HHD), pinch- and grip strength…
The overall aim of the project is to define effects of genetic and non-genetic variants on pharmacological treatment response in children with asthma. The following questions will be answered:- What are the characteristics of children who do not…
The major objective of this pilot study is to delineate SAD endophenotypes by investigating information processing characteristics, brain activity and connectivity, within the two key dimensions relevant to the SAD symptomatology: attention and…
To assess the differences in the brain responses to food presentation and food choice and how these responses are modulated by hunger and gut signals in normal weight and overweight subjects across the lifespan.
A fundamental question in the current research proposal concerns how changes in cognitive and social-emotional behavior are related to functional and anatomical brain development. The current proposal has the objective to (a) understand the neural…
Development and validation of the D-AI KIDS and the D-AI YA:Currently there is no standardized instrument that measures visually impaired children*s and young adults' participation based on the nine ICF-CY domains. The primary objective of this…
The objective of this study is to identify the effect of musical experience and training on the perception of speech in quiet and in noise, as well as on perception of music-related stimuli, such as, pitch, timbre, emotion and melody recognition, in…