Kwun Y - Search Results

1

Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).

Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK. Cho SY, et al. Among authors: kwun y. J Korean Med Sci. 2014 Feb;29(2):254-60. doi: 10.3346/jkms.2014.29.2.254. Epub 2014 Jan 28. J Korean Med Sci. 2014. PMID: 24550654 Free PMC article.

2

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. 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

3

Disease-specific growth charts for Korean infants with Prader-Willi syndrome.

Lee J, Isojima T, Chang MS, Kwun YH, Huh R, Cho SY, Sohn YB, Jin DK. Lee J, et al. Am J Med Genet A. 2015 Jan;167A(1):86-94. doi: 10.1002/ajmg.a.36816. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339260

4

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

Chung YK, Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK. Chung YK, et al. Among authors: kwun y. Glycoconj J. 2014 May;31(4):309-15. doi: 10.1007/s10719-014-9523-0. Epub 2014 Apr 30. Glycoconj J. 2014. PMID: 24781369

5

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.

Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK. Kwun Y, et al. J Korean Med Sci. 2015 Jul;30(7):911-6. doi: 10.3346/jkms.2015.30.7.911. Epub 2015 Jun 10. J Korean Med Sci. 2015. PMID: 26130954 Free PMC article.

6

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.

Chang MS, Han JC, Lee J, Kwun Y, Huh R, Ki CS, Kee C, Cho SY, Jin DK. Chang MS, et al. Among authors: kwun y. Ann Clin Lab Sci. 2015 Winter;45(1):90-3. Ann Clin Lab Sci. 2015. PMID: 25696017

7

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK. Yang A, et al. Among authors: kwun y. Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):40-5. doi: 10.6065/apem.2015.20.1.40. Epub 2015 Mar 31. Ann Pediatr Endocrinol Metab. 2015. PMID: 25883926 Free PMC article.

8

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

Wejaphikul K, Cho SY, Huh R, Kwun Y, Lee J, Ki CS, Jin DK. Wejaphikul K, et al. Among authors: kwun y. Ann Clin Lab Sci. 2015 Spring;45(2):215-8. Ann Clin Lab Sci. 2015. PMID: 25887879

9

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK. Cho SY, et al. Among authors: kwun y. Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731. Hum Mutat. 2015. PMID: 25402547

10

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Choy YS, et al. Mol Genet Metab. 2015 May;115(1):41-7. doi: 10.1016/j.ymgme.2015.03.005. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25892708

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