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 and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.
Wu SF et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2026
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx
Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.
Huang S et al.
Translational Pediatrics, 2025
Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.
Huang H et al.
Frontiers in Cardiovascular Medicine, 2024
39512369 (PubMed )
Supplement: Table1.pdf
Differential Effects of ABCG5/G8 Gene Region Variants on Lipid Profile, Blood Pressure Status, and Gallstone Disease History in Taiwan.
Teng MS et al.
Genes, 2023
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
Features of chinese patients with sitosterolemia.
Zhou Z et al.
Lipids in Health and Disease, 2022
Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.
Deng L et al.
Frontiers in Genetics, 2021
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.
Sun W et al.
The Journal of Gene Medicine, 2020
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