The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis

The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis

Early diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifying infants with a high clinical suspicion of NP-C...

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Bibliographic Details
Main Authors: Neng-Li Wang, Lian Chen, Yi Lu, Xin-Bao Xie, Jing Lin, Kuerbanjiang Abuduxikuer, Jian-She Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
neonatal cholestasis
infant
Niemann-Pick disease type C
Kupffer cell
diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.867413/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.867413/full

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