000			02052 a2200625 4500
005			20250516174524.0
264		0	_c20140408
008			201404s 0 0 eng d
022			_a1573-2665
024	7		_a10.1007/s10545-008-1063-y _2doi
040			_aNLM _beng _cNLM
100	1		_aPuusepp, H
245	0	0	_aThe screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. _h[electronic resource]
260			_bJournal of inherited metabolic disease _cDec 2010
300			_aS5-11 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aBiomarkers _xurine
650	0	4	_aBrain Diseases, Metabolic, Inborn _xdiagnosis
650	0	4	_aChild
650	0	4	_aCreatine _xdeficiency
650	0	4	_aCreatinine _xurine
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEstonia _xepidemiology
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenetic Testing _xmethods
650	0	4	_aHeredity
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aIntelligence _xgenetics
650	0	4	_aMale
650	0	4	_aX-Linked Intellectual Disability _xdiagnosis
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense
650	0	4	_aNerve Tissue Proteins _xdeficiency
650	0	4	_aPedigree
650	0	4	_aPersons with Intellectual Disabilities
650	0	4	_aPhenotype
650	0	4	_aPlasma Membrane Neurotransmitter Transport Proteins _xdeficiency
650	0	4	_aPredictive Value of Tests
650	0	4	_aPrevalence
650	0	4	_aSeverity of Illness Index
650	0	4	_aYoung Adult
700	1		_aKall, K
700	1		_aSalomons, G S
700	1		_aTalvik, I
700	1		_aMännamaa, M
700	1		_aRein, R
700	1		_aJakobs, C
700	1		_aÕunap, K
773	0		_tJournal of inherited metabolic disease _gvol. 33 Suppl 3 _gp. S5-11
856	4	0	_uhttps://doi.org/10.1007/s10545-008-1063-y _zAvailable from publisher's website
999			_c23182455 _d23182455