ReviewJournal of atherosclerosis and thrombosis2021
Diagnosis and Management of Sitosterolemia 2021.
Review in Journal of atherosclerosis and thrombosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
53 citing papers in PubMed, 105 citations in OpenAlex.
- Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge.American journal of preventive cardiology · 2026Article
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- Current and Future Perspectives of LDL-C Lowering Therapies 2026.Journal of atherosclerosis and thrombosis · 2026Review
- ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study.Scientific reports · 2026Observational
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Journal of medical case reports · 2026Article
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- Sitosterolemia with Compound Heterozygous Variants in theTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygousBiomedical reports · 2025Article
- Biochemical investigations, in silico study and targeted delivery aspects of plant phytosterols: β-sitosterol.Inflammopharmacology · 2025Review
- Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.JACC. Case reports · 2025Article
- Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.Archives of endocrinology and metabolism · 2025Article
- Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.Journal of paediatrics and child health · 2025Article
- Fiber in the Treatment of Dyslipidemia in Pediatric Patients.Children (Basel, Switzerland) · 2025Review
- [Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.Translational pediatrics · 2025Article
- Submicron Dispersions of Phytosterols Reverse Liver Steatosis with Higher Efficacy than Phytosterol Esters in a Diet Induced-Fatty Liver Murine Model.International journal of molecular sciences · 2025Article
- Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.Journal of clinical medicine · 2025Article
- From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant.Clinical, cosmetic and investigational dermatology · 2025Article
- Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.Annals of pediatric endocrinology & metabolism · 2024Article
Corrections and comments
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Authors and funding
15 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. However, accumulated clinical data as well as genetics suggest the possibility of a much higher prevalence. Its clinical manifestations resemble those observed in patients with familial hypercholesterolemia (FH), including tendon xanthomas, hyper LDL-cholesterolemia, and premature coronary atherosclerosis. We provide an overview of this recessive genetic disease, diagnostic as well as therapeutic tips, and the latest diagnostic criteria in Japan.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.