Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lisa C. Hahn"'
Publikováno v:
Clinical genetics. 21(6)
Cultured skin fibroblasts from patients with mucolipidosis IV were found to be deficient in neuraminidase activity toward GD1a and GD1b gangliosides radiolabelled in C8 and C7 analogs of their sialic acid residues. Neuraminidase activities toward 4-m
Publikováno v:
Pediatric Research. 15:572-572
777 MANNOSIDOSIS: CATALYTICALLY ACTIVE EXTRACELLULAR ACIDIC α-MANNOSIDASE (α-man) DUE TO INCOMPLETE PROCESSING