TY  - GEN
AU  - Lenders,Malte
AU  - Stappers,Franciska
AU  - Niemietz,Christoph
AU  - Schmitz,Boris
AU  - Boutin,Michel
AU  - Ballmaier,Paula Johanna
AU  - Zibert,Andree
AU  - Schmidt,Hartmut
AU  - Brand,Stefan-Martin
AU  - Auray-Blais,Christiane
AU  - Brand,Eva
TI  - Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy
SN  - 1468-6244
PY  - 2020///0603
KW  - 1-Deoxynojirimycin
KW  - administration & dosage
KW  - Cell- and Tissue-Based Therapy
KW  - methods
KW  - Enzyme Replacement Therapy
KW  - Fabry Disease
KW  - genetics
KW  - Gene Editing
KW  - HEK293 Cells
KW  - Humans
KW  - Molecular Chaperones
KW  - Precision Medicine
KW  - Trihexosylceramides
KW  - metabolism
KW  - alpha-Galactosidase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2019-106005
ER  -