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Article

Estimated prevalence of Niemann-Pick type C disease in Quebec.

Scientific reports - 19 Nov 2021

Labrecque Marjorie, Touma Lahoud, Bhérer Claude, Duquette Antoine, Tétreault Martine

Abstract excerpt

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 varies from 0.35 to 2.2 per 100,000 births depending on the country. The aim of this study is to calculate the...

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PMID: 34799641
DOI: 10.1038/s41598-021-01966-0
PMCID: PMC8604933

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