Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants
Abstract Background Fructose 1, 6 bisphosphatase (FBPase) deficiency is a rare autosomal recessive disease caused by mutations in the FBP1 gene. Symptoms of this disease are heterogeneous, with a variable age of onset, and are often confused with those of other inborn errors of metabolism. Biochemic...
Gorde:
| Egile Nagusiak: | , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2025-11-01
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| Saila: | Orphanet Journal of Rare Diseases |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s13023-025-04100-9 |
| Etiketak: |
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