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
Opportunistic Detection of Phytosterolemia During Genetic Testing for FH: Case Series and Contextual Review.
Loh WJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
ABCG5 and ABCG8: more than a defense against xenosterols.
Patel SB et al.
Journal of Lipid Research, 2018
Liver transplantation in a patient with sitosterolemia and cirrhosis.
Miettinen TA et al.
Gastroenterology, 2006
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