Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease

Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and...

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Udgivet i:JIMD Rep
Main Authors: Stepien, Karolina M., Lum, Su Han, Wraith, J. Edmond, Hendriksz, Christian J., Church, Heather J., Priestman, David, Platt, Frances M., Jones, Simon, Jovanovic, Ana, Wynn, Robert
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122053/
https://ncbi.nlm.nih.gov/pubmed/29214523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_76
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