Article
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
European journal of pediatrics - 1 Mar 2008
Wraith J Edmond, Scarpa Maurizio, Beck Michael, Bodamer Olaf A, De Meirleir Linda, Guffon Nathalie, Meldgaard Lund Allan, Malm Gunilla, Van der Ploeg Ans T, Zeman Jiri
Abstract excerpt
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death...
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