9 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-…
The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.
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…
1) To assess whether galactosemia women with ovarian failure are able to produce estradiol after exogenous (normally bioactive) FSH and LH gift 2) To characterize FSH glycan structures
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
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…
Our overall aim is to assess the seroprevalence of SARS-CoV-2 antibodies in an international population of pwCF and to examine associations between SARS-CoV-2 infection and clinical risk factors for infection, as well as subsequent clinical outcomes…