ArticleCureus2026
Biallelic ABCG8 Variants or Biochemical Evidence of Sitosterolemia: A Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
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Authors and funding
2 authors.
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Abstract
Sitosterolemia is a rare lipid disorder characterized by xanthomas, premature atherosclerotic cardiovascular disease (ASCVD), and abnormally elevated circulating low-density lipoprotein cholesterol (LDL-c) measurements. Pathogenic variants in adenosine triphosphate (ATP)-binding cassette transporters lead to the accumulation of phytosterols. A child presented to the pediatric cardiology clinic with an incidentally noted presumed pathogenic variant and a variant of unknown significance in a sitosterolemia gene but had normal fasting lipids and no accumulation of circulating phytosterols. This case underscores the importance of phenotype-driven management and universal lipid screening, while highlighting the challenges of a gene-first testing/screening approach.
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Registered trials
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.