Gaucher disease type 2 (case report)
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopeni...
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Main Authors: | D. R. Shagieva, R. V. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. G. Musin |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2020-09-01
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Series: | Русский журнал детской неврологии |
Subjects: | |
Online Access: | https://rjdn.abvpress.ru/jour/article/view/335 |
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