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: | Book |
| Published: |
Union of pediatricians of Russia,
2012-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |