000			01950 a2200505 4500
005			20250514160739.0
264		0	_c20040707
008			200407s 0 0 eng d
022			_a0009-8981
024	7		_a10.1016/j.cccn.2003.07.006 _2doi
040			_aNLM _beng _cNLM
100	1		_aYoung, Sarah P
245	0	0	_aA comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. _h[electronic resource]
260			_bClinica chimica acta; international journal of clinical chemistry _cNov 2003
300			_a103-13 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAcyl-CoA Dehydrogenase _xantagonists & inhibitors
650	0	4	_aButyric Acid _xpharmacology
650	0	4	_aButyryl-CoA Dehydrogenase _xdeficiency
650	0	4	_aCarbon Isotopes _xchemistry
650	0	4	_aCarnitine _xanalogs & derivatives
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDeuterium _xchemistry
650	0	4	_aFibroblasts _xchemistry
650	0	4	_aHeterozygote
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMalonates _xurine
650	0	4	_aMutation, Missense
650	0	4	_aPalmitic Acid _xpharmacology
650	0	4	_aPalmitoylcarnitine _xanalysis
650	0	4	_aPolymorphism, Genetic
650	0	4	_aSensitivity and Specificity
650	0	4	_aSpectrometry, Mass, Electrospray Ionization
650	0	4	_aSpiro Compounds _xpharmacology
700	1		_aMatern, Dietrich
700	1		_aGregersen, Niels
700	1		_aStevens, Robert D
700	1		_aBali, Deeksha
700	1		_aLiu, Hui-Ming
700	1		_aKoeberl, Dwight D
700	1		_aMillington, David S
773	0		_tClinica chimica acta; international journal of clinical chemistry _gvol. 337 _gno. 1-2 _gp. 103-13
856	4	0	_uhttps://doi.org/10.1016/j.cccn.2003.07.006 _zAvailable from publisher's website
999			_c14310811 _d14310811