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Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). Although plasma lyso-Gb3 is a sensitive biomarker of FD, the correlation between its concentrati...

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Detalles Bibliográficos
Autores principales: Taguchi, Atsumi, Ishii, Satoshi, Mikame, Mariko, Maruyama, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823212/
https://www.ncbi.nlm.nih.gov/pubmed/36624895
http://dx.doi.org/10.1016/j.ymgmr.2022.100952

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