| 000 | 01568 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517225214.0 | ||
| 264 | 0 | _c20190328 | |
| 008 | 201903s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddy248 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWelford, R W D | |
| 245 | 0 | 0 |
_aGlucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _c10 2018 |
||
| 300 |
_a3392-3403 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a1-Deoxynojirimycin _xanalogs & derivatives |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aFabry Disease _xdrug therapy |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xdrug effects |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlucosyltransferases _xantagonists & inhibitors |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney _xdrug effects |
| 650 | 0 | 4 |
_aLysosomes _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aTrihexosylceramides _xgenetics |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xgenetics |
| 700 | 1 | _aMühlemann, A | |
| 700 | 1 | _aGarzotti, M | |
| 700 | 1 | _aRickert, V | |
| 700 | 1 | _aGroenen, P M A | |
| 700 | 1 | _aMorand, O | |
| 700 | 1 | _aÜçeyler, N | |
| 700 | 1 | _aProbst, M R | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 27 _gno. 19 _gp. 3392-3403 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddy248 _zAvailable from publisher's website |
| 999 |
_c28608728 _d28608728 |
||