NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular...
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Main Authors: | A. S. Kotov, K. V. Firsov |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2017-12-01
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Series: | Русский журнал детской неврологии |
Subjects: | |
Online Access: | https://rjdn.abvpress.ru/jour/article/view/227 |
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