Lee DH - Search Results

1

Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.

Sohn YB, Park SW, Kim SH, Cho SY, Ji ST, Kwon EK, Han SJ, Oh SJ, Park YJ, Ko AR, Paik KH, Lee J, Lee DH, Jin DK. Sohn YB, et al. Among authors: lee dh, lee j. Am J Med Genet A. 2012 May;158A(5):1158-63. doi: 10.1002/ajmg.a.35263. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495825

2

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

Choi R, Jo KI, Ko DH, Lee DH, Song J, Jin DK, Ki CS, Lee SY, Kim JW, Lee YW, Park HD. Choi R, et al. Among authors: lee dh, lee sy, lee yw. BMC Med Genet. 2014 Aug 15;15:94. doi: 10.1186/s12881-014-0094-5. BMC Med Genet. 2014. PMID: 25124065 Free PMC article.

3

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW. Choi JH, et al. Among authors: lee dh, lee bh. Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. Medicine (Baltimore). 2017. PMID: 28723748 Free PMC article.

4

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. Among authors: lee dh, lee sy, lee yw. 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

5

The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.

Park HD, Park KU, Kim JQ, Shin CH, Yang SW, Lee DH, Song YH, Song J. Park HD, et al. Among authors: lee dh. Genet Med. 2005 Nov-Dec;7(9):646-9. doi: 10.1097/01.gim.0000194023.27802.2d. Genet Med. 2005. PMID: 16301867 Free article.

6

Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.

Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW. Kang DH, et al. Among authors: lee dh, lee yw, lee st, lee yk. Korean J Lab Med. 2010 Oct;30(5):516-20. doi: 10.3343/kjlm.2010.30.5.516. Korean J Lab Med. 2010. PMID: 20890085

7

SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.

Yoon YA, Lee DH, Ki CS, Lee SY, Kim JW, Lee YW, Park HD. Yoon YA, et al. Among authors: lee dh, lee sy, lee yw. Ann Clin Lab Sci. 2012 Fall;42(4):424-8. Ann Clin Lab Sci. 2012. PMID: 23090741

8

Pilot study of mass screening for Wilson's disease in Korea.

Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH. Hahn SH, et al. Among authors: lee dh, lee sy, lee js. Mol Genet Metab. 2002 Jun;76(2):133-6. doi: 10.1016/s1096-7192(02)00026-4. Mol Genet Metab. 2002. PMID: 12083810

9

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. Among authors: lee dh, lee yk. 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.

10

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT. Chiu YH, et al. Among authors: lee dh. J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12. J Hum Genet. 2012. PMID: 22237589

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