| 000 | 01458 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516060503.0 | ||
| 264 | 0 | _c20120315 | |
| 008 | 201203s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2011.09.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTylki-Szymańska, Anna | |
| 245 | 0 | 0 |
_aGaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cDec 2011 |
||
| 300 |
_a627-30 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_a1-Deoxynojirimycin _xanalogs & derivatives |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aDiagnostic Errors |
| 650 | 0 | 4 |
_aEnzyme Inhibitors _xtherapeutic use |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGaucher Disease _xcomplications |
| 650 | 0 | 4 |
_aHepatomegaly _xdrug therapy |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aSaposins _xdeficiency |
| 650 | 0 | 4 |
_aSplenomegaly _xdrug therapy |
| 650 | 0 | 4 | _aTreatment Failure |
| 700 | 1 | _aGroener, Johanna E M | |
| 700 | 1 | _aKamiński, Marek Leszek | |
| 700 | 1 | _aŁugowska, Agnieszka | |
| 700 | 1 | _aJurkiewicz, Elżbieta | |
| 700 | 1 | _aCzartoryska, Barbara | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 104 _gno. 4 _gp. 627-30 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2011.09.010 _zAvailable from publisher's website |
| 999 |
_c21213351 _d21213351 |
||