Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 2019
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
Adrenal insufficiency in phytosterolaemia.
Mushtaq T et al.
European Journal of Endocrinology, 2007
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
Rees DC et al.
British Journal of Haematology, 2005
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