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A lysosomal storage disease caused by deficiency of the threonine peptidase, N-aspartyl-β-glucosaminidase (EC 3.5.1.26, 346 aa) that cleaves the asparagine from the residual N-acetylglucosamines produced by breakdown of glycoproteins. The Finnish form is characterized by severe mental retardation, sagging cheeks, and various skeletal abnormalities.
Subjects: Chemistry.
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