9 results
The objective of the study is to investigate the applicability of the whole body MRI protocol in Gaucher disease. To do so, we will investigate:1. If whole-body MRI ironmeasurements represent the distribution and total amoount of Gauchercells in the…
To test if acute NK boosts muscle mitochondrial function in vivo in patients with VLCADD in order to establish a rational basis for therapeutic use in this disorder. A secondary objective is to gather data to test the working hypothesis that the…
To study feasibility, reliability and validity of a specific set of outcome measures in children with mitochondrial myopathy.
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.…
1. To determine the nature and time course of the energy sensing machinery during starvation in humans.2. To correlate systemic adaptations with changes at the cellular level.
In this study, we will investigate the use of optical spectroscopy in determining neonatal bilirubin and hemoglobin blood levels. The outcome and accuracy of the optical spectroscopy measurements will be compared to the outcome of laboratory blood…
The aim of this study is to test the hypothesis that obesity and the microbial community in the human GI tract are linked
To characterize the natural history and clinical management of AHP patients with porphyria attacks.
To investigate whether a tailored physical activity program that starts early (during curative chemotherapy with cardiovascular toxic potential) is superior in terms of reducing long-term cancer-treatment-related metabolic syndrome and…