Article
Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
Annals of clinical and laboratory science - 1 Jan 2013
Park Hyung-Doo, Lee Dong Hwan, Choi Tae-Youn, Lee You Kyoung, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok, Lee Yong-Wha
Abstract excerpt
BACKGROUND: Glycogen storage disease II (GSD II) is caused by a deficiency of acid alpha-1,4-glucosidase and mutations in the GAA gene encoding this enzyme which are responsible for the pathogenesis of GSD II. Our goal was to determine the mutational spectrum in the GAA gene in Korean patients with GSD II. METHODS: Three patients with GSD II were recruited based on clinical and biochemical findings....
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