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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Main Authors: Abdullah Al-Shamrani (Author), Khalid Al-Shamrani (Author), Ahmed Bin Mahfoudh (Author), Ahmed Sarar Mohamed (Author), Sarar Mohamed (Author)
Format: Book
Published: MDPI AG, 2022-11-01T00:00:00Z.
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3rd Floor Main Library

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