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A new tool to quantify motor performance in aging people with and without neurodegeneration.

The main goal of the study is to develop and validate a device that provides an objective measure of degradation of motor performance in elderly people. The device will assist to diagnose neurodegenerative disorders in the elderly at an early stage…

a explorative study of nutritional state and the effect of diet intervention on body composition, muscle strength, activity, pulmonary function and quality of life in adults with mitochondrial disease caused by the m.3243A.G mutation.

1. To obtain knowledge about the nutritional status of adult patients with mitochondrial disease and the determinants that contribute to this.2. Evaluate the effect of dietary intervention in adult patients with mitochondrial disease on nutritional…

Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging

The primary objectives are: 1. To assess BBB integrity in MPS IIIB patients by estimating the CSF AI.2. To determine the BBB transfer coefficient by DCE-MRI in MPS IIIB patients.The secondary objectives are: 1. To describe the relationship between…

A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease

The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…