Paik KH - Search Results

1

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK. Sohn YB, et al. Among authors: paik kh. Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589. Am J Med Genet A. 2010. PMID: 21108396

2

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

Park SW, Lee ST, Sohn YB, Kim SH, Cho SY, Ko AR, Ji ST, Kwon JY, Yeau S, Paik KH, Kim JW, Jin DK. Park SW, et al. Among authors: paik kh. Am J Med Genet A. 2011 Dec;155A(12):2970-3. doi: 10.1002/ajmg.a.34309. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052808

3

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.

Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK. Sohn YB, et al. Among authors: paik kh. Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105882

4

Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation.

Lee JH, Choe YH, Kim SJ, Paik KH, Jin DK. Lee JH, et al. Among authors: paik kh. Yonsei Med J. 2011 Mar;52(2):263-7. doi: 10.3349/ymj.2011.52.2.263. Yonsei Med J. 2011. PMID: 21319344 Free PMC article.

5

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK. Kim SH, et al. Among authors: paik kh. Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Ann Clin Lab Sci. 2011. PMID: 21325261

6

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK. Cho SY, et al. Among authors: paik kh. Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Ann Clin Lab Sci. 2011. PMID: 21844578

7

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: paik kh. 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

8

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

Kim CH, Hwang HZ, Song SM, Paik KH, Kwon EK, Moon KB, Yoon JH, Han CK, Jin DK. Kim CH, et al. Among authors: paik kh. Hum Mutat. 2003 Apr;21(4):449-50. doi: 10.1002/humu.9128. Hum Mutat. 2003. PMID: 12655569

9

Correlation of adiponectin receptor expression with cytokines and insulin sensitivity in growth hormone (GH)-treated children with Prader-Willi syndrome and in non-GH-treated obese children.

Sohn YB, Kwak MJ, Kim SJ, Park SW, Kim CH, Kim MY, Kwon EK, Paik KH, Jin DK. Sohn YB, et al. Among authors: paik kh. J Clin Endocrinol Metab. 2010 Mar;95(3):1371-7. doi: 10.1210/jc.2009-1489. Epub 2010 Jan 8. J Clin Endocrinol Metab. 2010. PMID: 20061428

10

Continuous renal replacement therapy in neonates weighing less than 3 kg.

Sohn YB, Paik KH, Cho HY, Kim SJ, Park SW, Kim ES, Chang YS, Park WS, Choi YH, Jin DK. Sohn YB, et al. Among authors: paik kh. Korean J Pediatr. 2012 Aug;55(8):286-92. doi: 10.3345/kjp.2012.55.8.286. Epub 2012 Aug 23. Korean J Pediatr. 2012. PMID: 22977441 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

80 results

Search Page

Filters