Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)
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Sohn, Woo Yun
(Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine)
Lee, Jee Hyun (Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine) Paik, Kyung Hoon (Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine) Kwon, Eun Kyoung (Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine) Kim, Ahn Hee (Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine) Jin, Dong Kyu (Department of Pediatrics, Samsung Medical Center,Sungkyunkwan University School of Medicine) |
1 | Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 1990;85:389-90 |
2 | Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel : Is Hunter disease a 'Jewish disease'? Hum Genet 1980;56:221-3 DOI PUBMED |
3 | Muenzer J. The mucopolysaccharidoses : a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004;144(5 Suppl):27S-34S DOI PUBMED ScienceOn |
4 | Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996;87:4894-902 |
5 | Guffon N, Souillet G, Maire I, Straczek J, Guibaud P. Follow up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998;133:119-25 DOI ScienceOn |
6 | Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999;22:638-648 DOI ScienceOn |
7 | Young ID, Haper PS. The natural history of the severe form of Hunter's syndrome : a study based on 52 cases. Dev Child Neurol 1983;25:481-9 |
8 | Vellodi A, Young EP, Cooper A, Wraith JE, Winchester B, Meany C, et al. Bone marrow transplantation for mucopolysaccharidosis type I : experience of two British centers. Arch Dis Child 1997;76:92-9 DOI ScienceOn |
9 | Colville GA, Bax MA. Early presentation in the mucopolysaccharide disorders. Chil Care Health Dev 1996;22:31-6 DOI ScienceOn |
10 | Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I : a randomized, double blinded, placebo-cotrolled, multinational study of recombinanat human alpha-L-laronidase. J Pediatr 2004;144:581-8 DOI ScienceOn |
11 | Field RE, Buchanan JA, Copplemans MG, Aichroth PM. Bone marrow transplantation in Hurler's syndrome. Effect on skeletal development. J Bone Joint Surg (Br) 1994;76:975-81 |
12 | Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the Mucopolysaccharidoses in Western Australia. Am J Med Genet 2003;123:310-3 |
13 | Muenzer J. Mucopolysacharidoses. Adv Pediatr 1986;269-302 |
14 | Herskhovitz E, Young E, Rainer J, Hall CM, Lidchi V, Chong K, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS IV) : long term follow up. J Inherit Metab Dis 1999;22:50-62 DOI ScienceOn |
15 | Clarke L, Muenzer J, Klodny EH, Pastores G, Beck M, Wraith JE. RhIDU enzyme replacement therapy for MPS I : 24 week extension study. Am J Hum Genet 2002;71(Suppl):481 |
16 | Neufeld EF, Muenzer J. The mucopolysaccharidoses. In : Scriver CR, Beudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York : McGraw Hill, 2001:3421-52 |
17 | Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al. Enzyme replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-8 DOI ScienceOn |
18 | Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome : Long term follow-up after bone marrow transplantation. J Pediatr Orthop 2004;24:97-101 DOI ScienceOn |
19 | Nelson J. Incidence of the mucopolysacharides in Northern Ireland. Hum Genet 1997;101:355-8 DOI PUBMED ScienceOn |
20 | Kurihara M, Kumagai K, Goto K, Imai M, Yagishita S. Severe type Hunter's syndrome. Polysomnographic and neuropathological study. Neuropediatrics 1992;23:248-56 DOI |
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