3 results
Patients will be included in 3 prospective cohorts, cohort A, B, C and 1 retrospective cohort, cohort 0. Cohort A: The primary objective of cohort A is to show that by implementing a standard infrastructure all newly diagnosed girls with cancer (or…
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 primary objective of the study is to assess the proportion of neonates with hyperbilirubinaemia necessitating treatment that is detected using universal TcB screening compared to using only visual inspection, while decreasing the number of heel…