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

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 swallowing dy...

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Detalles Bibliográficos
Autores principales: Solomon, Beth I., Muñoz, Andrea M., Sinaii, Ninet, Farhat, Nicole M., Smith, Andrew C., Bianconi, Simona, Dang Do, An, Backman, Michael C., Machielse, Leonza, Porter, Forbes D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446530/
https://www.ncbi.nlm.nih.gov/pubmed/36064725
http://dx.doi.org/10.1186/s13023-022-02472-w

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