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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.
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Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine.
N-acetylated metabolites in urine: proton nuclear magnetic resonance ... by Engelke, Udo F.H.; Liebrand-van Sambeek, Maria L.F.; De Jong, Jan G.N.; Leroy, Jules G.; Morava, Eva / Clinical Chemistry
23) Galactosialidosis 1/1 MPS IV B NA [alpha]-D-Mannosidase [alpha]-Mannosidosis 2/2 5 (EC 3.
Hurler-like phenotype: enzymatic diagnosis in dried blood spots on ... by Chamoles, Nestor A.; Blanco, Mariana B.; Gaggioli, Daniela; Casentini, Carina / Clinical Chemistry
Urinary oligosaccharides Disease Sialyl-oligosaccharides Sialidose I Sialidose II Galactosialidosis Galactosyl-oligosaccharides GMI gangliosidosis Morquio type B Glucosaminyl-oligosaccharides Sandhorf disease Fucosyl-oligosaccharides Fucosidosis R-GIcNAc([beta]1-N)Asn (a) Aspartylglucosaminuria [alpha]-Mannosyl-oligosaccharides [alpha]-Mannosidosis with a GIcNAc residue at the reducing end Man([beta]1-4)GIcNAc R-Mannosidosis (a) R, oligosaccharide group.
Protein glycosylation and diseases: blood and urinary ... by Durand, Genevieve; Seta, Nathalie / Clinical Chemistry
 
 
 
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