| 000 | 01883 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250516035222.0 | ||
| 264 | 0 | _c20140417 | |
| 008 | 201404s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.21534 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOttolenghi, Chris | |
| 245 | 0 | 0 |
_aClinical and biochemical heterogeneity associated with fumarase deficiency. _h[electronic resource] |
| 260 |
_bHuman mutation _cSep 2011 |
||
| 300 |
_a1046-52 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aCell Hypoxia |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aComputer Simulation |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFumarate Hydratase _xchemistry |
| 650 | 0 | 4 |
_aFumarates _xurine |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoxia-Inducible Factor 1, alpha Subunit _xmetabolism |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMalformations of Cortical Development _xenzymology |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aSignal Transduction |
| 700 | 1 | _aHubert, Laurence | |
| 700 | 1 | _aAllanore, Yannick | |
| 700 | 1 | _aBrassier, Anais | |
| 700 | 1 | _aAltuzarra, Cécilia | |
| 700 | 1 | _aMellot-Draznieks, Caroline | |
| 700 | 1 | _aBekri, Soumeya | |
| 700 | 1 | _aGoldenberg, Alice | |
| 700 | 1 | _aVeyrieres, Severine | |
| 700 | 1 | _aBoddaert, Nathalie | |
| 700 | 1 | _aBarbier, Valérie | |
| 700 | 1 | _aValayannopoulos, Vassili | |
| 700 | 1 | _aSlama, Abdelhamid | |
| 700 | 1 | _aChrétien, Dominique | |
| 700 | 1 | _aRicquier, Daniel | |
| 700 | 1 | _aMarret, Stéphane | |
| 700 | 1 | _aFrebourg, Thierry | |
| 700 | 1 | _aRabier, Daniel | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _ade Keyzer, Yves | |
| 700 | 1 | _aToulhoat, Hervé | |
| 700 | 1 | _ade Lonlay, Pascale | |
| 773 | 0 |
_tHuman mutation _gvol. 32 _gno. 9 _gp. 1046-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21534 _zAvailable from publisher's website |
| 999 |
_c20823318 _d20823318 |
||