Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry disease. Enzyme replacement therapy (ERT) using re...

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Detalles Bibliográficos
Autores principales: Hongo, Kenichi, Harada, Toru, Fukuro, Eiko, Kobayashi, Masahisa, Ohashi, Toya, Eto, Yoshikatsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371906/
https://www.ncbi.nlm.nih.gov/pubmed/32714835
http://dx.doi.org/10.1016/j.ymgmr.2020.100623

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371906/
https://www.ncbi.nlm.nih.gov/pubmed/32714835
http://dx.doi.org/10.1016/j.ymgmr.2020.100623

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