Online ISSN: 3007-0244,
Print ISSN:  2410-4280
 



CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA

10905 10063 10064 8448 3566 3539 3545 3552 5 2024 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 ... ... 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: 31.10.2024
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CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA

5 2024

Изменен: 31.10.2024
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