LOINC display name : Cathepsin A (WBC) [Catalytic activity/Mass];
LOINC long common name : Cathepsin A [Enzymatic activity/mass] in Leukocytes;
LOINC short name : Cathepsin A WBC-cCnt;
LOINC description : Cathepsin A enzyme activity in leukocytes is measured as part of a diagnostic work-up
for galactosialidosis. Patients with galactosialidosis will have decreased activity
of the protective protein as well as decreased neuraminidase and β-galactosidase activity
in leukocytes (and/or fibroblasts). Sequencing of the CTSA gene is performed for detection
of disease-causing mutations.;
Has property