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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Bibliographic Details
Main Authors: A. S. Kotov, K. V. Firsov
Format: Article
Language:Russian
Published: ABV-press 2017-12-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
Online Access:https://rjdn.abvpress.ru/jour/article/view/227