A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann–Pick disease type C2 usually presents with respiratory symptoms, cholest...

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Detalles Bibliográficos
Autores principales: Al-Shamrani, Abdullah, Al-Shamrani, Khalid, Mahfoudh, Ahmed Bin, Mohamed, Ahmed Sarar, Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776807/
https://www.ncbi.nlm.nih.gov/pubmed/36553254
http://dx.doi.org/10.3390/children9121811

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