| 000 | 01842 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250513224336.0 | ||
| 264 | 0 | _c20010103 | |
| 008 | 200101s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/9.19.2853 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBaumgartner, M R | |
| 245 | 0 | 0 |
_aHyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cNov 2000 |
||
| 300 |
_a2853-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xblood |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aArginine _xblood |
| 650 | 0 | 4 | _aCHO Cells |
| 650 | 0 | 4 |
_aCatalytic Domain _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCitrulline _xblood |
| 650 | 0 | 4 | _aCricetinae |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFibroblasts |
| 650 | 0 | 4 | _aFrance |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperammonemia _xblood |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOrnithine _xblood |
| 650 | 0 | 4 |
_aOrnithine-Oxo-Acid Transaminase _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProline _xblood |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aHu, C A | |
| 700 | 1 | _aAlmashanu, S | |
| 700 | 1 | _aSteel, G | |
| 700 | 1 | _aObie, C | |
| 700 | 1 | _aAral, B | |
| 700 | 1 | _aRabier, D | |
| 700 | 1 | _aKamoun, P | |
| 700 | 1 | _aSaudubray, J M | |
| 700 | 1 | _aValle, D | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 9 _gno. 19 _gp. 2853-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/9.19.2853 _zAvailable from publisher's website |
| 999 |
_c11034346 _d11034346 |
||