Unusual presentations of sitosterolemia limited to hematological abnormalities: A report of four cases presenting with stomatocytic anemia and thrombocytopenia with macrothrombocytes.

Authors :: Zheng J
Ma J
Wu RH
Zhang X
Su Y
Zhang R
Zhang LQ
Source :: American journal of hematology [Am J Hematol] 2019 May; Vol. 94 (5), pp. E124-E127. Date of Electronic Publication: 2019 Feb 21.
Publication Year :: 2019

Subjects :: Adolescent
Child
Female
Humans
Male
Phytosterols blood
Phytosterols genetics
ATP Binding Cassette Transporter, Subfamily G, Member 5 genetics
ATP Binding Cassette Transporter, Subfamily G, Member 8 genetics
Anemia, Hemolytic, Congenital blood
Anemia, Hemolytic, Congenital genetics
Anemia, Hemolytic, Congenital pathology
Blood Platelets metabolism
Blood Platelets pathology
Hypercholesterolemia blood
Hypercholesterolemia genetics
Hypercholesterolemia pathology
Intestinal Diseases blood
Intestinal Diseases genetics
Intestinal Diseases pathology
Lipid Metabolism, Inborn Errors blood
Lipid Metabolism, Inborn Errors genetics
Lipid Metabolism, Inborn Errors pathology
Lipoproteins genetics
Mutation, Missense
Phytosterols adverse effects
Thrombocytopenia blood
Thrombocytopenia genetics
Thrombocytopenia pathology

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