000			02099 a2200601 4500
005			20250516070217.0
264		0	_c20120202
008			201202s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2011.11.011 _2doi
040			_aNLM _beng _cNLM
100	1		_aMayr, Johannes A
245	0	0	_aLipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. _h[electronic resource]
260			_bAmerican journal of human genetics _cDec 2011
300			_a792-7 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xdiagnosis
650	0	4	_aAcidosis, Lactic _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChromosomes, Human, Pair 4
650	0	4	_aConsanguinity
650	0	4	_aEnergy Metabolism _xgenetics
650	0	4	_aEpilepsy _xdiagnosis
650	0	4	_aEscherichia coli _xgenetics
650	0	4	_aFatal Outcome
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aGene Expression
650	0	4	_aGlycine _xblood
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aInfant, Newborn, Diseases _xdiagnosis
650	0	4	_aMale
650	0	4	_aMitochondria _xenzymology
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscle Hypotonia _xgenetics
650	0	4	_aMuscle, Skeletal _xenzymology
650	0	4	_aMutation, Missense
650	0	4	_aPyruvate Dehydrogenase Complex _xgenetics
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSulfurtransferases _xdeficiency
700	1		_aZimmermann, Franz A
700	1		_aFauth, Christine
700	1		_aBergheim, Christa
700	1		_aMeierhofer, David
700	1		_aRadmayr, Doris
700	1		_aZschocke, Johannes
700	1		_aKoch, Johannes
700	1		_aSperl, Wolfgang
773	0		_tAmerican journal of human genetics _gvol. 89 _gno. 6 _gp. 792-7
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2011.11.011 _zAvailable from publisher's website
999			_c21375982 _d21375982