Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver biopsies. Treatment for cholestatic liver dis...

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Detalles Bibliográficos
Autores principales: Chen, Fan, Guo, Shan, Li, Xuesong, Liu, Shengxuan, Wang, Li, Zhang, Victor Wei, Xu, Hui, Huang, Zhihua, Ying, Yanqin, Shu, Sainan
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/PMC8961870/
https://www.ncbi.nlm.nih.gov/pubmed/35360843
http://dx.doi.org/10.3389/fgene.2022.845246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961870/
https://www.ncbi.nlm.nih.gov/pubmed/35360843
http://dx.doi.org/10.3389/fgene.2022.845246

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