Estimated prevalence of Niemann–Pick type C disease in Quebec

Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose. In adults, symptoms appear mainly in the form of psychiatric problems. The prevalence v...

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Detalles Bibliográficos
Autores principales: Labrecque, Marjorie, Touma, Lahoud, Bhérer, Claude, Duquette, Antoine, Tétreault, Martine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604933/
https://www.ncbi.nlm.nih.gov/pubmed/34799641
http://dx.doi.org/10.1038/s41598-021-01966-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604933/
https://www.ncbi.nlm.nih.gov/pubmed/34799641
http://dx.doi.org/10.1038/s41598-021-01966-0

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