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Determination of phenylalanine in blood by high-performance anion-exchange chromatography-pulsed amperometric detection to diagnose phenylketonuria.
Jeong JS, Sim HJ, Lee YM, Yoon HR, Lee DH, Hong SP. Jeong JS, et al. J Chromatogr A. 2009 Jul 24;1216(30):5709-14. doi: 10.1016/j.chroma.2009.06.004. Epub 2009 Jun 7. J Chromatogr A. 2009. PMID: 19540504
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
Woo HI, Ki CS, Lee SY, Kim JW, Song J, Jin DK, Park WS, Lee DH, Lee YW, Park HD. Woo HI, et al. Clin Biochem. 2013 Feb;46(3):209-13. doi: 10.1016/j.clinbiochem.2012.10.008. Epub 2012 Oct 22. Clin Biochem. 2013. PMID: 23099195
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS. Lee YW, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):71-7. doi: 10.1016/j.ymgme.2007.05.003. Epub 2007 Jun 18. Mol Genet Metab. 2007. PMID: 17576084 Free PMC article.
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH. Yoon HR, et al. Clin Chim Acta. 2005 Apr;354(1-2):167-80. doi: 10.1016/j.cccn.2004.11.032. Clin Chim Acta. 2005. PMID: 15748614
Newborn screening in Korea.
Han YJ, Lee DH, Kim JW. Han YJ, et al. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:81-4. Southeast Asian J Trop Med Public Health. 2003. PMID: 15906703
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.
Choi HJ, Bang HI, Ki CS, Lee SY, Kim JW, Song J, Shin MR, Lee YW, Lee DH, Park HD. Choi HJ, et al. Ann Clin Lab Sci. 2014 Summer;44(3):317-23. Ann Clin Lab Sci. 2014. PMID: 25117105
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
Jang MA, Kim BC, Ki CS, Lee SY, Kim JW, Choi TY, Lee DH, Song J, Lee YW, Park HD. Jang MA, et al. Ann Clin Lab Sci. 2013 Winter;43(1):31-6. Ann Clin Lab Sci. 2013. PMID: 23462603
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