The invention relates to a specific substrate on an ALDH isoenzyme, to a composition comprising at least one such substrate, to a diagnostic marker comprising such a substrate, and to the uses thereof and associated methods.

The present disclosure provides assays for lysosomal enzymes, specifically palmitoyl protein thioesterase 1 (PPT1) and tripeptidyl peptidase 1 (TPP1), using, for example, tandem mass spectrometry. The assays involve the detection of enzymatic products obtained through the action of the lysosomal enzymes on new enzyme substrates, and can be used for quantitative enzyme activity measurements. The assays for the enzymes utilize a minimum steps for sample work up and can be run in a simplex format or in a duplex format for the detection of neuronal ceroid lipofuscinoses, or in a multiplex format with other mass spectrometry-based assays for screening of neuronal ceroid lipofuscinoses and other lysosomal storage disorders.

The invention relates to a specific substrate on an ALDH isoenzyme, to a composition comprising at least one such substrate, to a diagnostic marker comprising such a substrate, and to the uses thereof and associated methods.

The present disclosure provides assays for lysosomal enzymes, specifically palmitoyl protein thioesterase 1 (PPT1) and tripeptidyl peptidase 1 (TPP1), using, for example, tandem mass spectrometry. The assays involve the detection of enzymatic products obtained through the action of the lysosomal enzymes on new enzyme substrates, and can be used for quantitative enzyme activity measurements. The assays for the enzymes utilize a minimum steps for sample work up and can be run in a simplex format or in a duplex format for the detection of neuronal ceroid lipofuscinoses, or in a multiplex format with other mass spectrometry-based assays for screening of neuronal ceroid lipofuscinoses and other lysosomal storage disorders.

This invention provides methods for pyrosequencing and compositions comprising 3-O-modified deoxynucleoside triphosphates.

An embodiment provides a method for measuring an analyte component of an aqueous sample, including: introducing an indicator solution to the aqueous sample, wherein the indicator solution comprises a plurality of micelles, wherein an indicator is within the micelles and the plurality of micelles is assembled from a cationic surfactant to form an indicator solution; and measuring an analyte component concentration of the aqueous sample, wherein the measuring comprises measuring a change in fluorescence in the aqueous sample, wherein the change in fluorescence is responsive to the analyte component interacting with the indicator. Other aspects are described and claimed.