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...

Full description

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

Similar Items

Similar Items