A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature
Abstract Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase, which leads to various symptoms. We...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2025-07-01
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| Schriftenreihe: | Journal of Medical Case Reports |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s13256-025-05383-z |
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