Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies
Abstract Glycogen storage disease type I (GSDI) is an inherited metabolic disorder characterized by a deficiency of enzymes or proteins involved in glycogenolysis and gluconeogenesis, resulting in excessive intracellular glycogen accumulation. While GSDI is classified into four different subtypes ba...
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Wiley,
2023-09-01T00:00:00Z.
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