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Disease name
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II형 점액다당질증
(Mucopolysaccharidosis, type II)
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Study name
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헌터 증후군 동물 모델에서 새로운 방식의 IDS 효소 보충 치료를 통한 뇌기능 개선 연구 |
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Government department
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보건복지부 |
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Enterprise
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보건의료연구개발 |
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Institute
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삼성서울병원 |
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Department
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소아청소년과 |
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Duration
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2010-04-01~2012-03-31 |
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Director
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진동규 |
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Email
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jindk@skku.edu |
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Contact
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02-3410-3525 |
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References
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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. Yonsei Med J. 2011 Mar 1;52(2):263-7.
PMID:
21319344
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Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II. Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK. Clin Genet. 2011 Feb 3. doi: 10.111
PMID:
21291454
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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. Am J Med Genet A. 2010 Dec;152A(12):3129-32.
PMID:
21108396
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Otologic manifestations of Hunter syndrome and their relationship with speech development. Cho YS, Kim JH, Kim TW, Chung SC, Chang SA, Jin DK. Audiol Neurootol. 2008;13(3):206-12. Epub 2008 Jan 22.
PMID:
18212495
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Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome). Jeong HS, Cho DY, Ahn KM, Jin DK. Int J Pediatr Otorhinolaryngol. 2006 Oct;70(10):1765-9. Epub 2006 Jul 10.
PMID:
16831472
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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. Hum Mutat. 2003 Apr;21(4):449-50.
PMID:
12655569
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