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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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Detalles Bibliográficos
Autores principales:	Wang, Neng-Li, Chen, Lian, Lu, Yi, Xie, Xin-Bao, Lin, Jing, Abuduxikuer, Kuerbanjiang, Wang, Jian-She
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971202/ https://www.ncbi.nlm.nih.gov/pubmed/35368683 http://dx.doi.org/10.3389/fgene.2022.867413

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