Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy
Background. Niemann–Pick disease type C is a multisystem orphan disease caused by mutations in the NPC1 and NPC2 genes and characterized by clinical polymorphism. The difficulties of managing such patients lie in the diagnosis and differential diagnostic search with other conditions with cholestasis...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2024-05-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/2439 |
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