| 000 | 01450 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515035901.0 | ||
| 264 | 0 | _c20070123 | |
| 008 | 200701s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2006.06.009 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKorman, Stanley H | |
| 245 | 0 | 0 |
_aA novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cDec 2006 |
||
| 300 |
_a332-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xenzymology |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Lethal |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xanalysis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aPitt, James J | |
| 700 | 1 | _aBoneh, Avihu | |
| 700 | 1 | _aDweikat, Imad | |
| 700 | 1 | _aZater, Mokhtar | |
| 700 | 1 | _aMeiner, Vardiella | |
| 700 | 1 | _aGutman, Alisa | |
| 700 | 1 | _aBrivet, Michèle | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 89 _gno. 4 _gp. 332-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2006.06.009 _zAvailable from publisher's website |
| 999 |
_c16505995 _d16505995 |
||