… has been successfully applied to newborn screening for Pompe disease, Fabry disease and
… fluorometric method. Our objective was to evaluate the utility of this fluorometric method for …

… After incubation, fluorescence is read in a filter fluorometer and activity is expressed as uU/…
assay for diagnosis of Gaucher disease with excellent correlation to the standard method as …

… of GD can be readily achieved by analysis of GBA in … fluorometric, microfluidic or mass
spectrometry-based assays. Low GBA activities are typically confirmed through molecular analysis …

… Three fluorometric leukocyte β-glucosidase assays were compared for their ability to
diagnose Gaucher's disease and identify carriers of the disorder: the acid β-glucosidase assay of …

… Therefore, if one subtracts the results of fluorometric assays … fluorometric assay for Gaucher’s
disease that includes CBE. … for diagnostic purposes when Gaucher’s disease is suspected, …

… assay employing au~entic glucocerebroside substrate proved effective in confirming the
diagnosis of Gaucher’s disease: fluorometric assays … identify patients with Gaucher’s disease. …

… : Gaucher disease (GD) is a lysosomal storage disorder … an ultramicro-fluorometric assay
based on the method of … METHODS: The assay used 3-mm diameter blood spot and 8 mmol/l of …

… Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the
deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive …

… assay used multianalyte profiling via fluorometric detection of a 7-plex panel of human cytokines
(R&D Systems, Minneapolis, USA). The multiplex serum assay … fluorometric assay using …

… , Niemann-Pick diseases, and Fabry diseases; it is currently the most common assay used in
… This product has improved false-positive rates compared to fluorometric assays and offers a …