Niemann-Pick disease type C
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Descrição
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…
Fig 2. Subcortical Volumetric Reductions in Adult Niemann-Pick
Elevation of plasma lysosphingomyelin-509 and urinary bile acid
Niemann-Pick disease type C
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IJMS, Free Full-Text
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
Anesthetic consideration of Niemann-Pick Disease type C
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