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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak