Article
Multidisciplinary management of Hunter syndrome.
Pediatrics - 1 Dec 2009
Muenzer Joseph, Beck M, Eng C M, Escolar M L, Giugliani R, Guffon N H, Harmatz P, Kamin W, Kampmann C, Koseoglu S T, Link B, Martin R A, Molter D W, Muñoz Rojas M V, Ogilvie J W, Parini R, Ramaswami U, Scarpa M, Schwartz I V, Wood R E, Wraith E
Abstract excerpt
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies see...
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