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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| 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 |