Case Report: First Two Identified Cases of Fabry Disease in Central Asia

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb(3)) and its derivative globotriaosyl...

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Detalles Bibliográficos
Autores principales: Cainelli, Francesca, Argandykov, Dias, Kaldarbekov, Dauren, Mukarov, Murat, Tran Thi Phuong, Liên, Germain, Dominique P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110900/
https://www.ncbi.nlm.nih.gov/pubmed/33986771
http://dx.doi.org/10.3389/fgene.2021.657824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110900/
https://www.ncbi.nlm.nih.gov/pubmed/33986771
http://dx.doi.org/10.3389/fgene.2021.657824

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