An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of β-hexosaminidase A (Hex A), resulting from mutations in the HEXA (Tay–Sachs variant) or the HEXB (Sandhoff variant) genes. The enzyme deficiency in many patients with juveni...

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Bibliographic Details
Main Authors: Clarke, Joe T.R., Mahuran, Don J., Sathe, Swati, Kolodny, Edwin H., Rigat, Brigitte A., Raiman, Julian A., Tropak, Michael B.
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3019177/
https://ncbi.nlm.nih.gov/pubmed/20926324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.09.004
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