Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P, Alcalay RN, Liong C, Cullen E, Paciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Zhang XK, Keutzer JM and Oliva P. Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. Molecular Genetics and Metabolism. 2017. PubMed