Ki CS - Search Results

1

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Cho A, et al. Among authors: ki cs. J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940687

2

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK. Paik KH, et al. Among authors: ki cs. Hum Mutat. 2005 Oct;26(4):308-14. doi: 10.1002/humu.20205. Hum Mutat. 2005. PMID: 16116615

3

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

Kim IS, Ki CS, Kim JW, Lee M, Jin DK, Lee SY. Kim IS, et al. Among authors: ki cs. J Biochem Mol Biol. 2006 Jul 31;39(4):400-5. doi: 10.5483/bmbrep.2006.39.4.400. J Biochem Mol Biol. 2006. PMID: 16889683

4

Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY. Chung EJ, et al. Among authors: ki cs. Arch Neurol. 2006 Aug;63(8):1170-4. doi: 10.1001/archneur.63.8.1170. Arch Neurol. 2006. PMID: 16908747 Clinical Trial.

5

Real-time PCR assay compared with antigenemia assay for detecting cytomegalovirus infection in kidney transplant recipients.

Kim DJ, Kim SJ, Park J, Choi GS, Lee S, Kwon CD, Ki C, Joh J. Kim DJ, et al. Transplant Proc. 2007 Jun;39(5):1458-60. doi: 10.1016/j.transproceed.2007.01.088. Transplant Proc. 2007. PMID: 17580161

6

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW. Jong Hee Chae, et al. Among authors: ki cs, ki joong kim. J Child Neurol. 2007 Nov;22(11):1297-300. doi: 10.1177/0883073807307099. J Child Neurol. 2007. PMID: 18006960

7

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Oh SH, Park HD, Ki CS, Choe YH, Lee SY. Oh SH, et al. Among authors: ki cs. Clin Chem Lab Med. 2008;46(9):1245-9. doi: 10.1515/CCLM.2008.252. Clin Chem Lab Med. 2008. PMID: 18785866

8

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.

Lee J, Lee BL, Lee M, Kim JH, Kim JW, Ki CS. Lee J, et al. Among authors: ki cs. J Neurol Sci. 2009 Jun 15;281(1-2):122-4. doi: 10.1016/j.jns.2009.02.373. Epub 2009 Mar 25. J Neurol Sci. 2009. PMID: 19324374

9

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.

Lee ST, Lee J, Lee M, Kim JW, Ki CS. Lee ST, et al. Among authors: ki cs. Muscle Nerve. 2009 Nov;40(5):855-9. doi: 10.1002/mus.21340. Muscle Nerve. 2009. PMID: 19618435

10

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2009 Fall;39(4):399-404. Ann Clin Lab Sci. 2009. PMID: 19880769

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