Article
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis.
Biochemical Society transactions - 1 Dec 2010
Wong Andrew M S, Rahim Ahad A, Waddington Simon N, Cooper Jonathan D
Abstract excerpt
The NCLs (neuronal ceroid lipofuscinoses) are the most common inherited paediatric neurodegenerative disorder. Although genetically distinct, NCLs can be broadly divided into two categories: one in which the mutation results in a defect in a transmembrane protein, and the other where the defect l...
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