| 000 | 01690 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515013507.0 | ||
| 264 | 0 | _c20060705 | |
| 008 | 200607s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/s10545-005-0081-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAl-Sayed, M | |
| 245 | 0 | 0 |
_aIdentification of a common novel mutation in Saudi patients with argininosuccinic aciduria. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2005 |
||
| 300 |
_a877-83 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 |
_aArgininosuccinate Lyase _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenome |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMass Spectrometry |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSaudi Arabia |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSpectrometry, Mass, Electrospray Ionization |
| 700 | 1 | _aAlahmed, S | |
| 700 | 1 | _aAlsmadi, O | |
| 700 | 1 | _aKhalil, H | |
| 700 | 1 | _aRashed, M S | |
| 700 | 1 | _aImtiaz, F | |
| 700 | 1 | _aMeyer, B F | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 28 _gno. 6 _gp. 877-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-005-0081-2 _zAvailable from publisher's website |
| 999 |
_c16049871 _d16049871 |
||