Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

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Journal of Inherited Metabolic Disease, Vol. 21, Iss. 1, 1998-01 ,pp. : 60-70

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Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

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Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points

By Glamuzina Emma   Fettes Emma   Bainbridge Katie   Crook Victoria   Finnegan Niamh   Abulhoul Lara   Vellodi Ashok  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 3, 2011-06 ,pp. : 749-754

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Clinical and biochemical studies in mucopolysaccharidosis type II carriers

By Schwartz I.   Pinto L.   Breda G.   Lima L.   Ribeiro M.   Mota J.   Acosta A.   Correia P.   Horovitz D.   Porciuncula C.   Lipinski-Figueiredo E.   Fett-Conte A.   Oliveira Sobrinho R.   Norato D.   Paula A.   Kim C.   Duarte A.   Boy R.   Leistner-Segal S.   Burin M.   Giugliani R.  

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Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

By Beesley C.   Jackson M.   Young E.   Vellodi A.   Winchester B.  

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