Tay-Sachs Disease (TSD) and GM2 gangliosidosis, AB Variant
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1798-1
Reference9 articles.
1. Cachon-Gonzalez MB, Zaccariotto E, Cox TM (2018) Genetics and therapies for GM2 gangliosidosis. Curr Gene Ther 18:68–89. https://doi.org/10.2174/1566523218666180404162622
2. Leal AF et al (2020) GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies. Int J Mol Sci 21. https://doi.org/10.3390/ijms21176213
3. Maegawa GH et al (2006) The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 118:e1550–e1562. https://doi.org/10.1542/peds.2006-0588
4. Rowe OE et al (2021) Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. Mol Genet Metab 133:386–396. https://doi.org/10.1016/j.ymgme.2021.06.008
5. Ryckman AE, Brockhausen I, Walia JS (2020) Metabolism of glycosphingolipids and their role in the pathophysiology of lysosomal storage disorders. Int J Mol Sci 21. https://doi.org/10.3390/ijms21186881
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