Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency
This is the first study of FBP1 deficiency in Egypt, which expands the demographic, clinical, and genetic spectrum of this rare disease.
Authors
- Shimaa Hemdan
- Elsayed Abdelkreem (ORCID: https://orcid.org/0000-0002-8976-2989)
- Rania G. Abdelatif
- Abdelrahim A. Sadek (ORCID: https://orcid.org/0000-0001-6059-0936)
- Rofaida M. Magdy (ORCID: https://orcid.org/0000-0001-7939-3406)
- Ahmed Mahmoud Askar (ORCID: https://orcid.org/0000-0003-1054-1823)
- Nada Hammad Abdel Fattah
Institutions
- Ain Shams University (EG)
- Taibah University (SA)
- Sohag University (EG)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1186/s13052-025-02146-w
- Primary Topic
- Cancer, Hypoxia, and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Development Fund