Choice of diagnostic method for liver-type glycogen storage disease.
Toshihiko KakiuchiYumeng ZhangPublished in: Clinical case reports (2022)
Liver biopsy is a highly invasive in nature, and measurement of enzyme activity in blood cells and the Fernandez test are less certain for the diagnosis of glycogen storage disease (GSD). Therefore, genetic testing, which can also identify typing, should be prioritized for the diagnosis of GSD.