Fabry’s disease in children: analysis of personal observations, treatment possibilities

The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease. The disease is associated with the sphingolipids dysmetabolism, is caused by the accumulation of the globotriosylceramide (Gb3 ) and othersphingolipidsin the organism tissues and cells; it is charact...

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Bibliographic Details
Main Authors: A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova
Format: Artigo
Language:Russo
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2018-03-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
children
fabry’s disease
gla gene
diagnosis
genetic counselling
treatment
agalsidase alfa
Online Access:https://www.ped-perinatology.ru/jour/article/view/622
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