Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia

Author:

Wang Zhaoyue1,Cao Lijuan1,Su Yanhua12,Wang Gaifeng1,Wang Ruijuan1,Yu Ziqiang1,Bai Xia1,Ruan Changgeng1

Affiliation:

1. Jiangsu Institute of Hematology; The First Affiliated Hospital of Soochow University; Key Lab of Thrombosis and Hemostasis of Ministry of Health; Suzhou China

2. Deparment of Hematology; The First Affiliated Hospital of Harbin Medical University; Harbin China

Publisher

Wiley

Subject

Hematology

Reference25 articles.

1. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters;Bhattacharyya;J Clin Invest,1974

2. Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis;Salen;J Lipid Res,1989

3. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters;Berge;Science,2000

4. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption;Lee;Nat Genet,2001

5. Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population;Miettinen;Am J Epidemiol,1990

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