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Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.
Fabry disease is a monogenic X-linked lysosomal storage disease caused by α-galactosidase A (αGalA) deficiency. Enzyme replacement therapy through administration of the missing αGalA is currently the only accepted therapeutic option. However, this treatment is connected to high costs, has ill-define...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4186980/ https://ncbi.nlm.nih.gov/pubmed/24992926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00441-014-1922-9 |
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