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 ... ... complicates detection. Both disorders manifest cardiovascular complications with elevated total cholesterol (TC) levels. The lipid profile distinguishes these conditions, necessitating HPLC, GC-MS tools. Genetic testing for mutations is essential for ...
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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