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Autor:
Patricia B. Prevatt, Margaret A. McNulty, Ashley N. Randle, Elizabeth R. Nussbaum, Judith A. Hudson, Aime K. Johnson, Miguel Sena-Esteves, Cathy S. Carlson, Douglas R. Martin, Heather L. Gray-Edwards
Publikováno v:
J Orthop Res
Sandhoff disease (SD) is caused by decreased function of the enzyme β-N-acetylhexosaminidase, resulting in accumulation of GM2 ganglioside in tissues. Neural tissue is primarily affected and individuals with the infantile form of the disease general