| 000 | 01505 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515001214.0 | ||
| 264 | 0 | _c20060130 | |
| 008 | 200601s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/s10545-005-0053-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFunghini, S | |
| 245 | 0 | 0 |
_aSuccessful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2005 |
||
| 300 |
_a801-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmniocentesis |
| 650 | 0 | 4 |
_aAmniotic Fluid _xmetabolism |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aCarbamoyl-Phosphate Synthase (Ammonia) _xdeficiency |
| 650 | 0 | 4 |
_aChorionic Villi _xmetabolism |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLiver _xembryology |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aPregnancy Complications |
| 650 | 0 | 4 |
_aPrenatal Diagnosis _xmethods |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSkin _xmetabolism |
| 650 | 0 | 4 | _aTime Factors |
| 700 | 1 | _aMorrone, A | |
| 700 | 1 | _aPasquini, E | |
| 700 | 1 | _aZammarchi, E | |
| 700 | 1 | _aDonati, M A | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 28 _gno. 5 _gp. 801-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-005-0053-6 _zAvailable from publisher's website |
| 999 |
_c15786305 _d15786305 |
||