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...
Sábháilte in:
| Príomhchruthaitheoirí: | , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
BMC
2025-11-01
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| Sraith: | Orphanet Journal of Rare Diseases |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1186/s13023-025-04100-9 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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