Niemann-Pick disease type C
Por um escritor misterioso
Last updated 01 setembro 2024
![Niemann-Pick disease type C](https://assets.medlink.com/content/article-media/npmv2b.jpg)
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 disease type C](https://onlinelibrary.wiley.com/cms/asset/cc97a67d-acb5-42ae-b9d7-7c5a323dd80c/jnc13138-fig-0004-m.jpg)
Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016
![Niemann-Pick disease type C](https://www.ajnr.org/content/34/7/1334/F1.large.jpg)
Fig 1. Subcortical Volumetric Reductions in Adult Niemann-Pick
![Niemann-Pick disease type C](https://cyclotherapeutics.com/wp-content/uploads/2021/06/CYCLO-_NPCD_Circles-09.png)
Niemann-Pick Disease Type C - cyclotherapeutics
![Niemann-Pick disease type C](https://i.ytimg.com/vi/Fx28WYe-OW8/maxresdefault.jpg)
Niemann-Pick disease Type C - causes, symptoms, diagnosis
![Niemann-Pick disease type C](https://api.journals.elsevier.com/media/hy5n3fsl/niemann-17154823.jpg)
Elevation of plasma lysosphingomyelin-509 and urinary bile acid
![Niemann-Pick disease type C](https://i.ytimg.com/vi/0Wa4Yg-j4JE/maxresdefault.jpg)
Niemann Pick disease
![Niemann-Pick disease type C](https://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs13023-018-0844-0/MediaObjects/13023_2018_844_Fig1_HTML.png)
Miglustat in Niemann-Pick disease type C patients: a review
National Niemann-Pick Disease Foundation, Inc. - October is Global
![Niemann-Pick disease type C](https://www.researchgate.net/publication/257184232/figure/fig2/AS:403072313511937@1473111336158/Niemann-Pick-disease-type-C-as-a-neurovisceral-disease-Schematic-representation-of-the.png)
Niemann-Pick disease type C as a neurovisceral disease. Schematic
![Niemann-Pick disease type C](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160710065417-25846-mediumThumb-S146239940800080X_fig1g.jpg?pub-status=live)
The pathogenesis of Niemann–Pick type C disease: a role for
![Niemann-Pick disease type C](https://www.frontiersin.org/files/MyHome%20Article%20Library/237917/237917_Thumb_400.jpg)
Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid
![Niemann-Pick disease type C](https://ars.els-cdn.com/content/image/1-s2.0-S2213231716302567-fx1.jpg)
Mitochondrial GSH replenishment as a potential therapeutic
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