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Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease
Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of globotriaosylceramide (Gb3). However, the production of its deacylated form globotriaosylsphingosine (lyso-Gb3) is also observed and its plasma levels have closer association with disease severity. Studie...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360391/ https://www.ncbi.nlm.nih.gov/pubmed/37145097 http://dx.doi.org/10.1093/hmg/ddad073 |