Publications by authors named "Ummue Alakus Sari"
Clin Chim Acta
April 2022
Article Synopsis
- Sitosterolemia is a condition characterized by high levels of plant sterols due to increased absorption and reduced excretion, causing symptoms like xanthomas, anemia, and thrombocytopenia.
- A 10-year-old boy with pancytopenia and macrothrombocytopenia was studied, revealing a new genetic variant related to the ABCG5 gene, which is linked to Sitosterolemia.
- Treatment with a restricted diet and ezetimibe significantly lowered the patient's plant sterol levels, highlighting the importance of considering Sitosterolemia in children with subtle hematological signs.
