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

Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity [1] Beutler and Kuhl 1990. In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the ta...

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Pubblicato in:Mol Genet Metab
Autori principali: Wolf, Pavlina, Alcalay, Roy N., Liong, Christopher, Cullen, Emmaline, Paciulo, Michael W., Nichols, William C., Gan-Or, Ziv, Chung, Wendy K., Faulkner, Tina, Bentis, Christopher, Pomponio, Robert J., Ma, Xiwen, Zhang, X. Kate, Keutzer, Joan M., Oliva, Petra
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5808899/
https://ncbi.nlm.nih.gov/pubmed/29100779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.10.011
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