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Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea.
Kim JY, Hyun YY, Lee JE, Yoon HR, Kim GH, Yoo HW, Cho ST, Chun NW, Jeoung BC, Kim HJ, Kim KW, Kim SN, Kim YA, Lee HA, Lee JY, Lee YC, Lim HK, Oh KS, Son SH, Yu BH, Wee KS, Lee EJ, Lee YK, Noh JW, Kim SJ, Choi KB, Yu SH, Pyo HJ, Kwon YJ. Kim JY, et al. Korean J Intern Med. 2010 Dec;25(4):415-21. doi: 10.3904/kjim.2010.25.4.415. Epub 2010 Nov 27. Korean J Intern Med. 2010. PMID: 21179280 Free PMC article.
The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activity. ...
The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activ …
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
Quantitative analysis of acyl-lysophosphatidic acid in plasma using negative ionization tandem mass spectrometry.
Yoon HR, Kim H, Cho SH. Yoon HR, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 May 5;788(1):85-92. doi: 10.1016/s1570-0232(02)01031-0. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12668074
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
Chromatographic diagnosis of maple syrup urine disease by measuring the L-alloisoleucine/L-phenylalanine ratio in dried blood spots.
Jeong JS, Sim HJ, Lee YM, Yoon HR, Kwon HJ, Hong SP. Jeong JS, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Jul 15;879(22):2171-4. doi: 10.1016/j.jchromb.2011.05.023. Epub 2011 May 23. J Chromatogr B Analyt Technol Biomed Life Sci. 2011. PMID: 21680261
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