PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 24 results sorted by: Most RecentSee all results in PubMed (24)
Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.
Gene. 2023. PMID: 37390873
A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.
Clin Chim Acta. 2022. PMID: 35167844
Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia.
J Clin Lipidol. 2022. PMID: 34887220 Free article.
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
J Clin Lipidol. 2021. PMID: 34304999
Macrothrombocytopenia and stomatocytosis in sitosterolaemia.
Br J Haematol. 2021. PMID: 33901316 No abstract available.