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Original Article

Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia

Jae Sung Ko, Hye Ran Yang, Jong Won Kim, Jeong Kee Seo

Clin Exp Pediatr. 2005;48(8):877-880. Published online August 15, 2005

Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD...

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