000			02183 a2200661 4500
005			20250514220220.0
264		0	_c20060516
008			200605s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20146 _2doi
040			_aNLM _beng _cNLM
100	1		_aCaldovic, Ljubica
245	0	0	_aLate onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. _h[electronic resource]
260			_bHuman mutation _cMar 2005
300			_a293-8 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdult
650	0	4	_aAge of Onset
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aAmino Acid Substitution
650	0	4	_aAmino-Acid N-Acetyltransferase _xchemistry
650	0	4	_aAnimals
650	0	4	_aBrain Death
650	0	4	_aCatalysis
650	0	4	_aChild
650	0	4	_aConsensus Sequence
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDietary Proteins _xadverse effects
650	0	4	_aFatal Outcome
650	0	4	_aFemale
650	0	4	_aGlutamates _xmetabolism
650	0	4	_aGlutamic Acid _xmetabolism
650	0	4	_aHumans
650	0	4	_aHyperammonemia _xenzymology
650	0	4	_aInfant, Newborn
650	0	4	_aLearning Disabilities _xgenetics
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMultiple Trauma _xsurgery
650	0	4	_aMutagenesis, Site-Directed
650	0	4	_aMutation, Missense
650	0	4	_aPoint Mutation
650	0	4	_aPostoperative Complications
650	0	4	_aRNA Splice Sites _xgenetics
650	0	4	_aRecombinant Fusion Proteins _xmetabolism
650	0	4	_aSubstrate Specificity
650	0	4	_aUrea _xmetabolism
650	0	4	_aVertebrates _xgenetics
700	1		_aMorizono, Hiroki
700	1		_aPanglao, Maria G
700	1		_aLopez, Giselle Y
700	1		_aShi, Dashuang
700	1		_aSummar, Marshall L
700	1		_aTuchman, Mendel
773	0		_tHuman mutation _gvol. 25 _gno. 3 _gp. 293-8
856	4	0	_uhttps://doi.org/10.1002/humu.20146 _zAvailable from publisher's website
999			_c15390184 _d15390184