Publications by authors named "Daniel Bernardus van Schalkwijk"
Article Synopsis
- Familial hypercholesterolaemia leads to high LDL-C levels and can cause early cardiovascular disease if not diagnosed or treated effectively.
- Current guidelines recommend genetic testing for patients with certain clinical criteria and urge family screening, but many affected individuals do not have detectable genetic variants and likely have a more common form of hypercholesterolaemia.
- This study uses machine learning to develop new classification models from paediatric data, integrating additional lipid parameters to enhance the accurate identification of monogenic familial hypercholesterolaemia and potentially improve genetic screening outcomes.
