galactosialidosis

[gah-lak″to-si-al″ĭdo´sis] an autosomal recessive disorder clinically almost identical to sialidosis" >sialidosis type II but due to a deficiency of both sialidase" >sialidase and β-galactosidase" >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.

单词	galactosialidosis
释义	galactosialidosis galactosialidosis [gah-lak″to-si-al″ĭdo´sis] an autosomal recessive disorder clinically almost identical to sialidosis" >sialidosis type II but due to a deficiency of both sialidase" >sialidase and β-galactosidase" >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.
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