Clinical features and rare complications in 132 patients with hepatic glycogenosis
Liver glycogenosis can present distinct and similar clinical, laboratory, and radiological features, challenging differential diagnosis between types. Our study may guide diagnosing and monitoring common GSDs with hepatic involvement.
Authors
- Deniz Kör (ORCID: https://orcid.org/0000-0001-7659-0500)
- Burcu Köşeci (ORCID: https://orcid.org/0000-0002-0813-6776)
- İrem Kaplan (ORCID: https://orcid.org/0000-0002-5006-3646)
- Esra Kara (ORCID: https://orcid.org/0000-0001-9119-0791)
- Neslihan Önenli Mungan (ORCID: https://orcid.org/0000-0001-7862-3038)
- Ezgi Burgaç (ORCID: https://orcid.org/0000-0003-2936-058X)
- Fatma Derya Bulut (ORCID: https://orcid.org/0000-0003-0529-2404)
- Nazmiye Tüzel Gündüz (ORCID: https://orcid.org/0009-0002-4836-974X)
Institutions
- Gaziantep Children's Hospital (TR)
- Cukurova University (TR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-04
- DOI
- https://doi.org/10.1186/s13023-025-03783-4
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00