000			02114 a2200637 4500
005			20250517142107.0
264		0	_c20170824
008			201708s 0 0 eng d
022			_a1573-2665
024	7		_a10.1007/s10545-017-0021-y _2doi
040			_aNLM _beng _cNLM
100	1		_aPaquay, Stéphanie
245	0	0	_aMitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. _h[electronic resource]
260			_bJournal of inherited metabolic disease _c05 2017
300			_a415-422 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_aAcetyl-CoA C-Acetyltransferase _xdeficiency
650	0	4	_aAcetyl-CoA C-Acyltransferase _xdeficiency
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAmino Acid Metabolism, Inborn Errors _xmetabolism
650	0	4	_aBasal Ganglia _xmetabolism
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aIsoleucine _xmetabolism
650	0	4	_aKetone Bodies _xmetabolism
650	0	4	_aKetosis _xmetabolism
650	0	4	_aMale
650	0	4	_aMitochondria _xmetabolism
650	0	4	_aNeonatal Screening _xmethods
650	0	4	_aRetrospective Studies
650	0	4	_aYoung Adult
700	1		_aBourillon, Agnès
700	1		_aPichard, Samia
700	1		_aBenoist, Jean-François
700	1		_ade Lonlay, Pascale
700	1		_aDobbelaere, Dries
700	1		_aFouilhoux, Alain
700	1		_aGuffon, Nathalie
700	1		_aRouvet, Isabelle
700	1		_aLabarthe, François
700	1		_aMention, Karine
700	1		_aTouati, Guy
700	1		_aValayannopoulos, Vassili
700	1		_aOgier de Baulny, Hélène
700	1		_aElmaleh-Bergès, Monique
700	1		_aAcquaviva-Bourdain, Cécile
700	1		_aVianey-Saban, Christine
700	1		_aSchiff, Manuel
773	0		_tJournal of inherited metabolic disease _gvol. 40 _gno. 3 _gp. 415-422
856	4	0	_uhttps://doi.org/10.1007/s10545-017-0021-y _zAvailable from publisher's website
999			_c26931647 _d26931647