The mind’s eye: A neuro-ophthalmological perspective on Niemann-Pick type C disease
Niemann-Pick disease type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in the NPC1 and NPC2 genes with an estimated incidence of 1:120 000 live births. The clinical presentations vary across the ages. Children present with visceral symptoms related to cholesterol accumul...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
AOSIS
2019-10-01
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| Series: | African Vision and Eye Health |
| Subjects: | |
| Online Access: | https://avehjournal.org/index.php/aveh/article/view/502 |