ArticleOrphanet journal of rare diseases2025
Efficacy of magnetic resonance imaging in managing glycogen storage disease.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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
1 citing paper in PubMed.
- Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.Orphanet journal of rare diseases · 2026Article
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4 authors.
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Abstract
backgroundGlycogen storage disease (GSD) is a rare genetic disorder requiring continuous management. It poses a risk of progression to hepatocellular adenoma (HCA) and hepatocellular carcinoma. While ultrasonography is the primary imaging modality to monitor liver health, it has limitations in assessing liver size and detecting HCAs, which can be addressed by magnetic resonance imaging (MRI). This study was conducted to evaluate the efficacy of MRI in the proactive management of GSD and its ability to predict HCA.
methodsThis study included 32 patients with GSD from Wonju Severance Christian Hospital, of whom 29 underwent MRI examinations. Baseline characteristics, such as sex, height, weight, and body surface area (BSA), were recorded, along with laboratory markers. The MRI protocols included T2-weighted axial and coronal imaging, proton magnetic resonance spectroscopy, multi-echo Dixon imaging, magnetic resonance elastography, and T1 mapping. The correlation between liver volumes and laboratory results was analyzed, and logistic regression was used to analyze the association between the liver volume/BSA ratio and adenoma occurrence.
resultsA significant correlation was observed between a high liver volume-to-BSA ratio and the likelihood of HCA development. Receiver operating characteristic curve analysis showed an area under the curve of 0.816 for predicting HCAs and a C-index of 0.847, indicating that MRI had high predictive accuracy. For each unit increase in the liver volume-to-BSA ratio, the probability of HCA increased by 1.005.
conclusionMRI is valuable for assessing adenoma formation in patients with GSD. Although not intended for routine surveillance of all patients, MRI can be selectively used in high-risk cases to enable early detection and timely intervention, thereby reducing the risk of progression to malignant transformation.
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