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