phytosterols has been researched along with Hematologic-Diseases* in 3 studies
3 other study(ies) available for phytosterols and Hematologic-Diseases
| Article | Year |
|---|---|
[Sitosterolemia in a 2 year-old child with xanthomas and hematological anomalies].
Topics: Child, Preschool; Female; Hematologic Diseases; Humans; Hypercholesterolemia; Intestinal Diseases; Lipid Metabolism, Inborn Errors; Phytosterols; Xanthomatosis | 2015 |
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9-year-old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous IVS10-1 G>T mutation in ABCG5 gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10-1 G>T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia. Topics: Anticholesteremic Agents; ATP Binding Cassette Transporter, Subfamily G, Member 5; ATP Binding Cassette Transporter, Subfamily G, Member 8; ATP-Binding Cassette Transporters; Azetidines; Child; Ezetimibe; Hematologic Diseases; Humans; Hypercholesterolemia; Intestinal Diseases; Lipid Metabolism, Inborn Errors; Lipoproteins; Male; Phytosterols; Point Mutation | 2014 |
Sterol and sterolin-containing products: hematologic adverse reactions.
Topics: Adult; Aged; Benzalkonium Compounds; Child; Female; Hematologic Diseases; Humans; Male; Phytosterols; Sterols | 2004 |