A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
Abstract Background Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc (GSD-IXc)-and are characterized by severe liver disease. Case presentation Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive increase in li...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-05-01T00:00:00Z.
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