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Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic dysfunction. The hepatic involvement in NPC is usually neona...

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Detalles Bibliográficos
Autores principales: Hwang, Soojin, Choi, Yunha, Lee, Beom Hee, Choi, Jin‐Ho, Kim, Ja Hye, Yoo, Han‐Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830012/
https://www.ncbi.nlm.nih.gov/pubmed/36636588
http://dx.doi.org/10.1002/jmd2.12344