000			01503 a2200421 4500
005			20250513185446.0
264		0	_c19990914
008			199909s 0 0 eng d
022			_a0964-6906
024	7		_a10.1093/hmg/8.8.1509 _2doi
040			_aNLM _beng _cNLM
100	1		_avan Grunsven, E G
245	0	0	_aEnoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. _h[electronic resource]
260			_bHuman molecular genetics _cAug 1999
300			_a1509-16 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_a17-Hydroxysteroid Dehydrogenases
650	0	4	_a3-Hydroxyacyl CoA Dehydrogenases _xdeficiency
650	0	4	_aAmino Acid Substitution
650	0	4	_aCells, Cultured
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEnoyl-CoA Hydratase _xdeficiency
650	0	4	_aFatal Outcome
650	0	4	_aGenetic Complementation Test
650	0	4	_aHumans
650	0	4	_aHydro-Lyases _xdeficiency
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMultienzyme Complexes _xdeficiency
650	0	4	_aPeroxisomal Disorders _xenzymology
650	0	4	_aPeroxisomal Multifunctional Protein-2
650	0	4	_aPoint Mutation
700	1		_aMooijer, P A
700	1		_aAubourg, P
700	1		_aWanders, R J
773	0		_tHuman molecular genetics _gvol. 8 _gno. 8 _gp. 1509-16
856	4	0	_uhttps://doi.org/10.1093/hmg/8.8.1509 _zAvailable from publisher's website
999			_c10359230 _d10359230