Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants
Fructose 1,6-bisphosphatase deficiency should be considered in children presenting with hypoglycemia and metabolic acidosis. Early molecular diagnosis is recommended to confirm the condition and to facilitate carrier screening and preventive strategies for at-risk family members.
Authors
- Radwa Mahmoud (ORCID: https://orcid.org/0000-0001-7804-6883)
- Solaf M. Elsayed (ORCID: https://orcid.org/0000-0003-3054-9929)
- Yasmeen Abdelaziz Fereig (ORCID: https://orcid.org/0000-0002-9884-3684)
Institutions
- Ain Shams University (EG)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1186/s13023-025-04100-9
- Citations
- 1
- Primary Topic
- Cancer, Hypoxia, and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Science and Technology Development Fund