Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature
Abstract Background Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2021-04-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |