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Article

A Phytosterolemia Patient Presenting Exclusively with Macrothrombocytopenia and Stomatocytic Hemolysis

1 Jan 2011

Abstract excerpt

BACKGROUND: Phytosterolemia is a rare autosomal recessive lipid storage disease. It is caused by mutations of ABCG5 and ABCG8 genes and characterized by the increased plasma levels of plant sterols. The common clinical manifestations include tendon and tuberous xanthomas and premature coronary heart disease; it has occasionally been associated with hematologic abnormalities. AIMS: We report a phytosterolemia...

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PMID: 21576934
DOI: 10.1159/000327248

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