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Article

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

American journal of hematology - 1 Mar 2014

Wang Zhaoyue, Cao Lijuan, Su Yanhua, Wang Gaifeng, Wang Ruijuan, Yu Ziqiang, Bai Xia, Ruan Changgeng

Abstract excerpt

Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The clinical features of sitosterolemia are xanthomas, premature atherosclerosis, arthritis, and, occasionally, liver function impair and hematologic abnormalities. This disorder is caused by mutations of ABCG5/ABCG8 genes. We report here the clinical, laboratory,...

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Source

Identifiers

PMID: 24166850
DOI: 10.1002/ajh.23619

Genes

ABCG5
ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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