Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.

@article{Park2013ThreePW,
  title={Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.},
  author={H D Park and Dong Hwan Lee and T Choi and You Kyoung Lee and Soo-Youn Lee and Jong-Won Kim and Chang Seok Ki and Yong-Wha Lee},
  journal={Annals of clinical and laboratory science},
  year={2013},
  volume={43 3},
  pages={311-6}
}
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. Alpha-1,4-glucosidase activity was determined and the GAA gene sequence was analyzed by PCR and… CONTINUE READING

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