Article
Pathomechanisms in the neuronal ceroid lipofuscinoses.
Biochimica et biophysica acta. Molecular basis of disease - 1 Sept 2020
Nelvagal Hemanth R, Lange Jenny, Takahashi Keigo, Tarczyluk-Wells Marta A, Cooper Jonathan D
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. The recent emergence of new forms of NCL along with an improved understanding of endo-lysosomal system function have necessitated the reassessment of their classification and pathogenesis. Novel clinical findings, as well as...
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