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aspartylglukozaminúria
Subject h. aspartylglukozaminúria Subject h. Aspartylglucosaminuria Entry terms aspartylglykozaminúria Scope note in English A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES. 
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