Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Abstract Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death. Although documented, the natural history of NPC1 swall...

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Bibliographic Details
Main Authors: Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-022-02472-w

Internet

https://doi.org/10.1186/s13023-022-02472-w

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