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A novel variant of fructose‐1,6‐bisphosphatase gene identified in an adult with newly diagnosed hepatitis C
Hepatic fructose‐1,6‐bisphosphatase (FBPase) deficiency commonly presents with acute crises during infancy when glycogen stores are depleted. In these patients, dependence on glycogenolysis means that the duration of normoglycaemia is related to liver glycogen stores. Clinical hallmarks of FBPase de...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898736/ https://www.ncbi.nlm.nih.gov/pubmed/35281660 http://dx.doi.org/10.1002/jmd2.12256 |