A case of Niemann – Pick disease type C
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of this type of glycosphingolipidosis and on established...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IMA-PRESS LLC
2013-12-01
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| Series: | Неврология, нейропсихиатрия, психосоматика |
| Subjects: | |
| Online Access: | https://nnp.ima-press.net/nnp/article/view/268 |