Sitosterolemia: A Case Report and a Concise Literature Review.

Published in: Case reports in endocrinology (2023)

The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.

Keyphrases

case report
genome wide
combination therapy
cancer stem cells
gene expression
label free
genome wide analysis