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

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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Bibliographic Details
Main Authors: Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed, Sarar Mohamed
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Children
Subjects:
Niemann–Pick
lipid storage disease
alveolar proteinosis
lipoid pneumonia
Online Access:https://www.mdpi.com/2227-9067/9/12/1811

Internet

https://www.mdpi.com/2227-9067/9/12/1811

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