12 results
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
(Primary) Determine whether measuring the expression level is a good functional test for confirming the genetic diagnosis in IRIDA by establishing the relation between the TMPRSS6 mRNA expression and the phenotype in IRIDA patients and their family…
The following research questions were formulated:• Does blood group P status (presence or absence of the 42C>T-SNP) correlate to GB3 content on fibroblasts and white blood cells of healthy controls?• Does blood group P status correlate to (…
The main objective: to evaluate the prescribed intake of micronutrients and fatty acids from natural protein and amino acid mixtures, and to correlate it to blood levels of these micronutrients and fatty acids, in patients with PKU. Secondary…
To determine the frequency of symptoms and signs of a neuromuscular disorder (myopathy, neuropathy) in patients with haemochromatosis. To evaluate in these patients the impact of these symptoms and signs on the quality of life. To assess in patients…
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. What proportion of X-ALD carriers have symptoms en what are those symptoms (as evaluated by history, neurologic examination and electrophysiology)?2. At what age did symptoms fist manifest themselves and how is the progression of those symtpoms?3…
The first aim of this study is to extend clinical knowledge on Sanfilippo syndrome. This has several important reasons:*Clinical knowledge helps the physician to provide better care to patients diagnosed with this incurable disease and to counsel…
To investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…
Integrating genomic (WES/WGS) and other -omics technology in order to find the genetic cause, in 500 patients (children and adults) with an unexplained metabolic phenotype in whom standard care (genetic and metabolic evaluation) did not provide a…
Primary objective is to explore a panel of biomarkers to support the scientific evaluation of BRN-002 as a potential therapeutic agent in the treatment of FH.
The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric patients with GSD III. The secondary objective of this study is to evaluate the sensitivity of various muscle strength and function measures to…