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
Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Wu LL et al.
Journal of Medical Case Reports, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.
Sun X et al.
Journal of Medical Case Reports, 2025
Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.
Huang S et al.
Translational Pediatrics, 2025
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.
Do TTM et al.
Journal of Clinical Medicine, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Cerebral involvement in sitosterolemia.
Li F et al.
Lipids in Health and Disease, 2024
Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.
Huang H et al.
Frontiers in Cardiovascular Medicine, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
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
Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
Tada H et al.
Internal Medicine (tokyo, Japan), 2023
Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.
Iyama K et al.
Internal Medicine (tokyo, Japan), 2022
Features of chinese patients with sitosterolemia.
Zhou Z et al.
Lipids in Health and Disease, 2022
Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.
Liu X et al.
Frontiers in Genetics, 2022
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Mekchay P et al.
Medicine, 2020
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.
Sun W et al.
The Journal of Gene Medicine, 2020
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Huang D et al.
Medicine, 2019
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
Fang D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Buonuomo PS et al.
Atherosclerosis, 2017
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y et al.
Journal of Clinical Lipidology, 0