Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
Lenders, Malte
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. [electronic resource] - Journal of medical genetics 08 2019 - 548-556 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2019-106005 doi
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
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. [electronic resource] - Journal of medical genetics 08 2019 - 548-556 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2019-106005 doi
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