Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.
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C. Ki | Jong-Won Kim | Soo-Youn Lee | B. Choe | H. Park | Junghan Song | Soonhak Kwon | H. Woo | Seungman Park | R. Choi | Dong Sub Kim | Yeomin Yoon