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galactosialidosis |
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galactosialidosis [gah-lak″to-si-al″ĭdo´sis]
an autosomal recessive disorder clinically almost identical to sialidosis type II but due to a deficiency of both sialidase and β-galactosidase.
galactosialidosis GM1 gangliosidosis AR condition due to a defective gene on chromosome 10, resulting in neuroaminidase and β-galactosidase deficiencies Clinical Neonatal onset with mental and physical retardation, seizures, visual
defects, deafness, gargoyle facies, corneal clouding, and a cherry red spot of the macula. See Cherry red spots. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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