A homozygous variant in G6PC in a Vietnamese patient with glycogen storage disease type IA

Glycogen storage diseases (GSDs) are rare inherited metabolic disorders characterized by the absence of required enzymes for the glycogen degradation metabolism. GSD can be divided into more than 12 types based on enzyme deficiency and affected tissues, in which glycogen storage disease type Ia (GSD1a or von Gierke disease) is a liver-affecting form.
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A homozygous variant in G6PC in a Vietnamese patient with glycogen storage disease type IA