| 000 | 01629 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250518034507.0 | ||
| 264 | 0 | _c20200603 | |
| 008 | 202006s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2019-106005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLenders, Malte | |
| 245 | 0 | 0 |
_aMutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _c08 2019 |
||
| 300 |
_a548-556 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a1-Deoxynojirimycin _xadministration & dosage |
| 650 | 0 | 4 |
_aCell- and Tissue-Based Therapy _xmethods |
| 650 | 0 | 4 |
_aEnzyme Replacement Therapy _xmethods |
| 650 | 0 | 4 |
_aFabry Disease _xgenetics |
| 650 | 0 | 4 | _aGene Editing |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMolecular Chaperones _xadministration & dosage |
| 650 | 0 | 4 |
_aPrecision Medicine _xmethods |
| 650 | 0 | 4 |
_aTrihexosylceramides _xmetabolism |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xgenetics |
| 700 | 1 | _aStappers, Franciska | |
| 700 | 1 | _aNiemietz, Christoph | |
| 700 | 1 | _aSchmitz, Boris | |
| 700 | 1 | _aBoutin, Michel | |
| 700 | 1 | _aBallmaier, Paula Johanna | |
| 700 | 1 | _aZibert, Andree | |
| 700 | 1 | _aSchmidt, Hartmut | |
| 700 | 1 | _aBrand, Stefan-Martin | |
| 700 | 1 | _aAuray-Blais, Christiane | |
| 700 | 1 | _aBrand, Eva | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 56 _gno. 8 _gp. 548-556 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2019-106005 _zAvailable from publisher's website |
| 999 |
_c29613906 _d29613906 |
||