The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2022-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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