RECOMMENDATIONS ON DIAGNOSTICS AND TACTICS OF MANAGEMENT OF NIEMANN-PICK DISEASE, TYPE C
Niemann–Pick disease, type C (NP-C), is a rare hereditary neurovisceral disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene (ca. 5% of cases) which lead to the intracellular lipid transport malfunction and accumulation of cholesterol and glycosphingolipids in brain...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2012-12-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/270 |
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