i describe a rapid gas-chromatographic method for specific detection of the lysosomal storage disease aspartylglycosaminuria , based on the identification of the major storage compound , 2-acetamido-1-n- ( 4'-l-aspartyl ) -2-deoxy-beta-d-glucopyranosylamine ( glcnac-asn ) in the urine of affected individuals .
C0085078
lysosomal storage disease
C0268225
aspartylglycosaminuria