Difficult diagnosis. Niemann - Pick disease, type C
Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of t...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Remedium Group LLC
2014-12-01
|
| Series: | Медицинский совет |
| Subjects: | |
| Online Access: | https://www.med-sovet.pro/jour/article/view/1226 |
| Summary: | Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of the disease. The article focuses on a rare genetic lysosomal storage disease which is inherited in autosomal recessive fashion - Niemann - Pick disease, type C. Types of clinical course and diagnostic methods are described in detail. |
|---|---|
| ISSN: | 2079-701X 2658-5790 |