Počet záznamov: 1
aspartylglukozaminúria
Heslo aspartylglukozaminúria Heslo anglicky Aspartylglucosaminuria Odkazy aspartylglykozaminúria Vysvetľujúca pozn. v angl. 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. 
predmetové heslo
Počet záznamov: 1