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Urine-derived cells: a promising diagnostic tool in Fabry disease patients
Fabry disease is a lysosomal storage disorder resulting from impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. Currently, powerful diagnostic tools and in vivo research models to study Fabry disease are missing, which is a major obstacle for further improveme...
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| Veröffentlicht in: | Sci Rep |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6056427/ https://ncbi.nlm.nih.gov/pubmed/30038331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-29240-w |
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