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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.
Choi R, Woo HI, Choe BH, Park S, Yoon Y, Ki CS, Lee SY, Kim JW, Song J, Kim DS, Kwon S, Park HD. Choi R, et al. Among authors: woo hi. Clin Chim Acta. 2015 Apr 15;444:50-3. doi: 10.1016/j.cca.2015.02.008. Epub 2015 Feb 11. Clin Chim Acta. 2015. PMID: 25681648
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