Publications by authors named "Mojca Bitenc"
Front Med (Lausanne)
June 2023
Article Synopsis
- Familial hypobetalipoproteinemia (FHBL) is a genetic disorder that affects cholesterol levels and can lead to various health issues, including liver disease and vitamin deficiencies.
- A pediatric patient and their family underwent genetic testing, revealing a novel variant in the gene linked to FHBL, affecting protein production and contributing to their health problems.
- The study emphasizes the importance of genetic testing and dietary management to prevent complications from low cholesterol levels and associated vitamin deficiencies in affected individuals.
