4 results
The main objective is to pinpoint the biological pathways that set long-term risk of CVD and NDI when epigenetically disturbed during fetal development by (1) establishing a longitudinal cohort of MC twins, (2) defining epigenetic alterations…
To survey the clinical and biochemical characteristics of individuals diagnosed with OCTN2, CPT2, CACT or BKT deficiency or suspected with OCTN2 deficiency after NBS in the Netherlands to aid the decision on whether or not to include these disorders…
The overall aim of the SIOP 2016 UMBRELLA protocol is to harmonize the clinical relevant standarddiagnostic procedures for all paediatric renal tumours within SIOP and to provide imaging studies andbiomaterial from all of these patients, to find new…
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…