CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA
... 10.34689/SH.2024.26.5.018 Introduction. Sitosterolemia is a rare genetic disorder directly associated with dysfunction of ABCG5 and G8 genes. The data obtained was used to analyze the cellular mechanisms and the role of transporters in absorption and ... ... mutations on the development of cardiovascular disease. Aim. To investigate the clinical manifestation between sitosterolemia and familial hypercholesterolemia (FH), focusing on how dysfunctions of transporters lead to the misdiagnosis of sitosterolemia as ...
Изменен: 31.10.2024Путь: Главная / Home / Publications
CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA
5 2024
Изменен: 31.10.2024Путь: Главная / Публикации
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