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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...
Autores principales: | Taguchi, Atsumi, Ishii, Satoshi, Mikame, Mariko, Maruyama, Hiroki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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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