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Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate

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Summary: We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) that were u... ...