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Department Of Pediatrics Chungnam National University Hospital College Of Medicine Chungnam National | 論文

• Mutation spectrum and polymorphisms in the human ATP7B gene and diverse phenotype of Korean patients with Wilson Disease
• Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests
• Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis
• Enzyme replacement therapy for Fabry disease in Korea
• Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations
• Low prevalence of classical galactosemia in Korean population

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