Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.

Abstract excerpt

BACKGROUND: Patients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging. METHODS: Here we retrospectively recruited 7 families...

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