Ko AR - Search Results

1

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.

Lee OJ, Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK. Lee OJ, et al. Among authors: ko ar. Korean J Pediatr. 2012 Mar;55(3):88-92. doi: 10.3345/kjp.2012.55.3.88. Epub 2012 Mar 16. Korean J Pediatr. 2012. PMID: 22474463 Free PMC article.

2

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls.

Park SW, Lee ST, Sohn YB, Cho SY, Kim SH, Kim SJ, Kim CH, Ko AR, Paik KH, Kim JW, Jin DK. Park SW, et al. Among authors: ko ar. Korean J Pediatr. 2012 Oct;55(10):388-92. doi: 10.3345/kjp.2012.55.10.388. Epub 2012 Oct 29. Korean J Pediatr. 2012. PMID: 23133486 Free PMC article.

3

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

Sohn YB, Park HD, Park SW, Kim SH, Cho SY, Ko AR, Ki CS, Yeau S, Jin DK. Sohn YB, et al. Among authors: ko ar. Ann Clin Lab Sci. 2012 Winter;42(1):89-93. Ann Clin Lab Sci. 2012. PMID: 22371915

4

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.

Hong SH, Chu H, Kim KR, Ko MH, Kwon SY, Moon IJ, Chung WH, Cho YS, Kim CH, Suh MW, Choi EW, Sohn YB, Park SW, Kim SH, Cho SY, Ko AR, Jin DK. Hong SH, et al. Among authors: ko mh, ko ar. Am J Med Genet A. 2012 Sep;158A(9):2131-8. doi: 10.1002/ajmg.a.35498. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847837

5

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Park HD, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK. Park HD, et al. Among authors: ko ar. Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401410

6

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).

Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK. Sohn YB, et al. Among authors: ko ar. Orphanet J Rare Dis. 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. Orphanet J Rare Dis. 2013. PMID: 23497636 Free PMC article. Clinical Trial.

7

Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.

Lee SC, Lee J, Jin DK, Kim JS, Jeon ES, Kwun YH, Chang MS, Ko AR, Yook YJ, Sohn YB. Lee SC, et al. Among authors: ko ar. Mol Genet Metab. 2014 Jul;112(3):218-23. doi: 10.1016/j.ymgme.2014.04.005. Epub 2014 Apr 30. Mol Genet Metab. 2014. PMID: 24836711

8

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.

Cho SY, Lee J, Ko AR, Kwak MJ, Kim S, Sohn YB, Park SW, Jin DK. Cho SY, et al. Among authors: ko ar. Orphanet J Rare Dis. 2015 Oct 31;10:141. doi: 10.1186/s13023-015-0356-0. Orphanet J Rare Dis. 2015. PMID: 26520066 Free PMC article.

9

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: ko ar. Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Ann Clin Lab Sci. 2011. PMID: 21325261

10

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: ko ar. Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Ann Clin Lab Sci. 2011. PMID: 21844578

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