Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.
Prence
E M
EM
Division of Medical Genetics, E.K. Shriver Center, Waltham, MA 02254, USA.
Gleason
J
J
Natowicz
M R
MR
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology*; D006596:Hexosaminidases / Q000172:deficiency* / Q000592:standards; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology*; D016464:Lysosomal Storage Diseases / Q000097:blood / Q000175:diagnosis*; D012016:Reference Values; D012680:Sensitivity and Specificity; D048809:alpha-N-Acetylgalactosaminidase
D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase