Each kit includes:

• Vials of dried, pre-mixed substrate and internal standard (qNMR quantified) for MS/MS enzyme assay of acid sphingomyelinase (ASM).

• The relevant Enzyme Assay Buffer.

First order comes with qNMR quantified enzymatic product relevant to the ASM enzyme assay, for mass spectrometry tuning and standard curve generation (See Absolute Quantification).

ASM; Niemann-Pick A/B; NPD; SMPD1

Acid Sphingomyelinase Assay Kit

SKU: CS4

Quantity

Catalog Number: CS4
Elliott, S., Buroker, N., Cournoyer, J.J., Potier, A.M., Trometer, J.D., Elbin, C., Schermer, M.J., Kantola, J., Boyce, A., Turecek, F. and Gelb, M.H., 2016. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. Molecular genetics and metabolism, 118(4), pp.304-309.

Elliott, S., Buroker, N., Cournoyer, J.J., Potier, A.M., Trometer, J.D., Elbin, C., Schermer, M.J., Kantola, J., Boyce, A., Turecek, F. and Gelb, M.H., 2016. Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry. Data in brief, 8, pp.915-924.

Hong, X., Sadilek, M. and Gelb, M.H., 2020. A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism. Genetics in Medicine, 22(7), pp.1262-1268.

Acid Sphingomyelinase Assay Kit

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