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multiple sulfatase deficiency |
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multiple sulfatase deficiency, an autosomal-recessive lysosomal storage disease in which a deficiency of at least nine lysosomal and microsomal sulfatases leads to accumulation of sulfate-containing glycolipids, mucopolysaccharides, and steroids. The disorder generally presents as sulfatide lipidosis and later also shows features of mucopolysaccharidoses, variably combining phenotypic features of the specific enzymatic defects. Neurologic deterioration is rapid. Also called mucosulfatidosis. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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