| 000 | 01438 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516060251.0 | ||
| 264 | 0 | _c20120905 | |
| 008 | 201209s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-011-9395-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEbrahim, Hatim Y | |
| 245 | 0 | 0 |
_aFunctional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cMar 2012 |
||
| 300 |
_a325-34 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aFabry Disease _xenzymology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlycogen Storage Disease Type II _xenzymology |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLysosomes _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutagenesis, Site-Directed _xmethods |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aTransfection _xmethods |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xgenetics |
| 650 | 0 | 4 |
_aalpha-Glucosidases _xgenetics |
| 700 | 1 | _aBaker, Robert J | |
| 700 | 1 | _aMehta, Atul B | |
| 700 | 1 | _aHughes, Derralynn A | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 35 _gno. 2 _gp. 325-34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-011-9395-4 _zAvailable from publisher's website |
| 999 |
_c21208129 _d21208129 |
||