A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
Abstract Background PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However, whether the phenotypes are applicab...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2019-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |