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mucolipidosis IV |
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mucolipidosis IV, an autosomal-recessive disorder characterized by psychomotor retardation and severe visual impairment, initially manifest in infancy or childhood as corneal clouding. Sialic acid-containing gangliosides are accumulated as a result of deficient ganglioside sialidase activity. However, the deficiency is not believed to be the primary defect. 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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