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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: A. S. Kotov, K. V. Firsov
Formato: Artigo
Idioma:Russo
Publicado em: ABV-press 2017-12-01
Colecção:Russkij Žurnal Detskoj Nevrologii
Assuntos:
anderson–fabry disease
neurological manifestations
agalsidase alfa
agalsidase beta
Acesso em linha:https://rjdn.abvpress.ru/jour/article/view/227
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados