000 | 01527 a2200433 4500 | ||
---|---|---|---|
005 | 20250515035450.0 | ||
264 | 0 | _c20070117 | |
008 | 200701s 0 0 eng d | ||
022 | _a0141-8955 | ||
024 | 7 |
_a10.1007/s10545-006-0342-8 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMerinero, B | |
245 | 0 | 0 |
_aPersistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. _h[electronic resource] |
260 |
_bJournal of inherited metabolic disease _cOct 2006 |
||
300 |
_a685 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aBrain Diseases _xdiagnosis |
650 | 0 | 4 |
_aButyryl-CoA Dehydrogenase _xgenetics |
650 | 0 | 4 |
_aCarnitine _xanalogs & derivatives |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMalonates _xurine |
650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
650 | 0 | 4 | _aNervous System Diseases |
650 | 0 | 4 |
_aNucleocytoplasmic Transport Proteins _xgenetics |
700 | 1 | _aPérez-Cerdá, C | |
700 | 1 | _aRuiz Sala, P | |
700 | 1 | _aFerrer, I | |
700 | 1 | _aGarcía, M J | |
700 | 1 | _aMartínez Pardo, M | |
700 | 1 | _aBelanger-Quintana, A | |
700 | 1 | _ade la Mota, J L | |
700 | 1 | _aMartin-Hernández, E | |
700 | 1 | _aVianey-Saban, C | |
700 | 1 | _aBischoff, C | |
700 | 1 | _aGregersen, N | |
700 | 1 | _aUgarte, M | |
773 | 0 |
_tJournal of inherited metabolic disease _gvol. 29 _gno. 5 _gp. 685 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-006-0342-8 _zAvailable from publisher's website |
999 |
_c16493844 _d16493844 |