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Article

Retinal axonal degeneration in Niemann–Pick type C disease

Niemann–Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset...

Joachim Havla, Marlene Moser, Clara Sztatecsny… in Journal of Neurology (2020)