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September 10, 2025Orphanet Journal of Rare DiseasesOpen Access

Clinical features and rare complications in 132 patients with hepatic glycogenosis

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Authors

DKDeniz KörFBFatma Derya BulutBKBurcu Köşeci

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Overview

Retrospective analysis of clinical characteristics and outcomes in 132 patients with hepatic glycogen storage diseases, highlighting unique complications.

Key Points

  • Most patients presented with distinct symptoms like abdominal distention and hypoglycemia.
  • A significant 84.9% showed hepatomegaly and 20.5% demonstrated splenomegaly, crucial for diagnosis.
  • Non-hepatic malignancies and structural anomalies were notably observed, highlighting unusual complications.
  • The study emphasizes the importance of genetic analysis for accurate diagnosis and management of hepatic glycogenosis.

Cite This Study

Kör et al. (2025) studied this question.

synapsesocial.com/papers/68c1b19354b1d3bfb60e8bfdhttps://doi.org/10.1186/s13023-025-03783-4
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study2026
  2. 2Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia2025
  3. 3A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data2024
  4. 4Genotype–phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital2026
  5. 5A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis2026