Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening
Author:
Funder
National Tay-Sachs and Allied Diseases Association
Taysha Gene Therapies
National Institutes of Health
Publisher
Elsevier BV
Reference12 articles.
1. Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis;Fitterer;Mol. Genet. Metab.,2014
2. GM2 Gangliosidoses: clinical features, pathophysiological aspects, and current therapies;Leal;Int. J. Mol. Sci.,2020
3. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease;Mark;J. Mol. Biol.,2003
4. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards;Chamoles;Clin. Chim. Acta,2002
5. CRISPR/nCas9-based genome editing on GM2 Gangliosidoses fibroblasts via non-viral vectors;Leal;Int. J. Mol. Sci.,2022
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