ArticleTranslational pediatrics2025
Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- Molecular genetic basis and clinical heterogeneity of sitosterolemia: focusing on the mutation spectrum and pathogenic mechanisms of ABCG5/ABCG8 genes.Frontiers in nutrition · 2026Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Sitosterolemia is a rare lipid disorder characterized by elevated phytosterols and low-density lipoprotein cholesterol (LDL-C), resulting from pathogenic variants in the Methods: The clinical features, laboratory profiles, and gene variations of 12 children diagnosed with sitosterolemia were analyzed. Long-term follow-up was conducted, with the longest observation period exceeding 8 years. Results: A total of 12 patients with sitosterolemia were diagnosed at our center. The age at diagnosis ranged from 4 months to 8.3 years, with a median age of 1.2 years. Seven patients presented with xanthoma. All patients underwent genetic testing, which revealed Conclusions: Xanthoma is a hallmark clinical feature in pediatric sitosterolemia, with most cases linked to variants in the
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