| 000 | 01254 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250514214807.0 | ||
| 264 | 0 | _c20050324 | |
| 008 | 200503s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1023/b:boli.0000043023.57321.18 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLongo, N | |
| 245 | 0 | 0 |
_aSuccinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2004 |
||
| 300 |
_a691-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAcidosis _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCoenzyme A-Transferases _xdeficiency |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDialysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aTime Factors |
| 700 | 1 | _aFukao, T | |
| 700 | 1 | _aSingh, R | |
| 700 | 1 | _aPasquali, M | |
| 700 | 1 | _aBarrios, R G | |
| 700 | 1 | _aKondo, N | |
| 700 | 1 | _aGibson, K M | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 27 _gno. 5 _gp. 691-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1023/b:boli.0000043023.57321.18 _zAvailable from publisher's website |
| 999 |
_c15348109 _d15348109 |
||