The experience of living with Niemann–Pick type C: a patient and caregiver perspective

BACKGROUND: Niemann–Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of cholesterol and other lipids in late endosomes/lysosomes, thereby resulting in a spectrum of neurological, psychiatric, and systemic symptoms (notably liver disease). Though it is...

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Detalles Bibliográficos
Autores principales: Golden, Emma, van Gool, Raquel, Cay, Mariesa, Goodlett, Benjamin, Cao, Amanda, Al-Hertani, Walla, Upadhyay, Jaymin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200045/
https://www.ncbi.nlm.nih.gov/pubmed/37210540
http://dx.doi.org/10.1186/s13023-023-02741-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200045/
https://www.ncbi.nlm.nih.gov/pubmed/37210540
http://dx.doi.org/10.1186/s13023-023-02741-2

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