Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Abstract Background Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, often with non-specific symptoms leading to delayed an...

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Bibliographic Details
Main Authors: Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter
Format: Article
Language:English
Published: BMC 2024-06-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-024-03241-7

Internet

https://doi.org/10.1186/s13023-024-03241-7

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