Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc
Abstract Background Glycogen storage disease type IXc (GSD IXc) is an ultra-rare disorder impairing liver glycogen degradation, caused by a defect in phosphorylase kinase (PhK) γ subunit in the liver encoded by PHKG2. We aim to investigate the clinical, biochemical, genetic, therapeutic, and follow-...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
BMC
2025-12-01
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| Rangatū: | Orphanet Journal of Rare Diseases |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s13023-025-04178-1 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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