Estimated prevalence of Niemann–Pick type C disease in Quebec
Abstract 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 pre...
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Autores principales: | Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
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Acceso en línea: | https://doaj.org/article/7b7034c9c309436abaf075521380d279 |
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