Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency

Clin Chim Acta. 1996 Mar 29;247(1-2):167-73. doi: 10.1016/0009-8981(95)06240-8.

Authors

E M Prence¹, J Gleason, M R Natowicz

Affiliation

¹ Division of Medical Genetics, E.K. Shriver Center, Waltham, MA 02254, USA.

PMID: 8920235
DOI: 10.1016/0009-8981(95)06240-8

No abstract available

MeSH terms

Cells, Cultured
Fibroblasts / enzymology*
Hexosaminidases / deficiency*
Hexosaminidases / standards
Humans
Hydrogen-Ion Concentration
Kinetics
Leukocytes / enzymology*
Lysosomal Storage Diseases / blood
Lysosomal Storage Diseases / diagnosis*
Reference Values
Sensitivity and Specificity
alpha-N-Acetylgalactosaminidase

Substances

Hexosaminidases
NAGA protein, human
alpha-N-Acetylgalactosaminidase