Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.
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| Title: | Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants. |
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| Authors: | Elsayed SM; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Mahmoud RG; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Fereig YA; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt. yasmeen8591@gmail.com. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 20; Vol. 20 (1), pp. 595. Date of Electronic Publication: 2025 Nov 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-025-04100-9 |
