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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Hongo, Kenichi, Harada, Toru, Fukuro, Eiko, Kobayashi, Masahisa, Ohashi, Toya, Eto, Yoshikatsu
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7371906/
https://ncbi.nlm.nih.gov/pubmed/32714835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100623
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