HIGHLIGHTS
| A novel approach to sitosterolemia diagnostics using dried-blood spots | ||
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We developed a cost-effective population screening method for evaluating blood concentrations of free sterols, which is feasible for detecting sitosterolemia in primary care settings. This cross-sectional study clearly demonstrated that the dried blood spot (DBS)-based assay effectively discriminated patients with sitosterolemia from both heterozygotes and healthy controls. Additionally, the molecular ratios of individual plant sterols to cholesterol in the DBS samples supported the established diagnostic cut-off values. This innovative DBS-based assay for free sterols has the potential to be a practical tool in both clinical practice and population screening programs.
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| 이전글 | Serum steroid profiling reveals metabolic signatures of subtypes in congenital adrenal hyperplasia | |
| 다음글 | [REVIEW] Clinical and technical aspects in free cortisol measurement | |
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