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- W2335333758 abstract "Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder." @default.
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- W2335333758 date "2015-01-01" @default.
- W2335333758 modified "2023-09-23" @default.
- W2335333758 title "A Rare Case of Mucopolysaccharidosis: Hunter Syndrome" @default.
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- W2335333758 doi "https://doi.org/10.7860/jcdr/2015/13251.5858" @default.
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