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Specific features of this work that should be highlighted are the reported ability to biochemically distinguish galactosialidosis [Online Mendelian Inheritance in Man (OMIM) #256540] from sialidosis (OMIM #256550) and to more reliably detect mucolipidosis II/III (OMIM #252500/252600/252605) and especially aspartylglucosaminuria (OMIM #208400), previously a very difficult diagnosis to make in early childhood.
Disorders of glycoprotein degradation and structure: a-mannosidosis, P-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria and carbohydrate-deficient glycoprotein syndrome.
In his argument, he addresses the question of why these disabilities should be prevented, and provides case studies of Down syndrome, fragile X syndrome, and aspartylglucosaminuria.
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes and Gaucher disease type III.
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
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.
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
Finnishtype aspartylglucosaminuria detected by oligonucleotide ligation assay.