Niemann-Pick disease type C

Niemann-Pick disease type C is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by impaired cellular trafficking of cholesterol and sphingolipids and caused by mutations in either the NPC1 or NPC2 gene. The age of presentation is highly variable, ranging from the…

Niemann-Pick Type C Disease Reveals a Link between Lysosomal

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Niemann–Pick Disease Type C

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White and gray matter alterations in adults with Niemann-Pick

Morphology of Niemann-Pick type C metabolic storage disorder

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological

Recent advances in the treatment of Niemann pick disease type C: A

Niemann-Pick-C desease - CERMO-FC

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A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C