Publications by authors named "Maria Luisa Tinoco"
Mol Genet Metab Rep
September 2024
Article Synopsis
- Hypertriglyceridemia (HTG) is linked to cardiovascular disease and pancreatitis, with severe cases often having genetic causes, and this study focused on Brazilian patients with severe HTG.
- A cohort of 212 patients with extremely high triglyceride levels was analyzed, resulting in 13% having identifiable pathogenic genetic variants, while 80% of detected variants were classified as Variants of Unknown Significance (VUS).
- The study identified common gene mutations associated with severe HTG and reported 16 new genetic variants, contributing valuable information for genetic counseling and healthcare in Brazil.
