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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: cho tj, cho sy. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
The metabolic syndrome and body composition in childhood cancer survivors.
Sohn YB, Kim SJ, Park SW, Kim SH, Cho SY, Lee SH, Yoo KH, Sung KW, Chung JH, Koo HH, Jin DK. Sohn YB, et al. Among authors: cho sy. Korean J Pediatr. 2011 Jun;54(6):253-9. doi: 10.3345/kjp.2011.54.6.253. Epub 2011 Jun 30. Korean J Pediatr. 2011. PMID: 21949520 Free PMC article.
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: cho sy. 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
2,195 results