Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. [electronic resource]
Producer: 20200603Description: 548-556 p. digitalISSN:- 1468-6244
- 1-Deoxynojirimycin -- administration & dosage
- Cell- and Tissue-Based Therapy -- methods
- Enzyme Replacement Therapy -- methods
- Fabry Disease -- genetics
- Gene Editing
- HEK293 Cells
- Humans
- Molecular Chaperones -- administration & dosage
- Precision Medicine -- methods
- Trihexosylceramides -- metabolism
- alpha-Galactosidase -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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