000			01962 a2200565 4500
005			20250515230110.0
264		0	_c20140408
008			201404s 0 0 eng d
022			_a1573-2665
024	7		_a10.1007/s10545-010-9132-4 _2doi
040			_aNLM _beng _cNLM
100	1		_aJezela-Stanek, Aleksandra
245	0	0	_aDifferences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? _h[electronic resource]
260			_bJournal of inherited metabolic disease _cDec 2010
300			_aS241-8 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_aAmniotic Fluid _xchemistry
650	0	4	_aBiomarkers _xanalysis
650	0	4	_aChorionic Villi _xchemistry
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDehydrocholesterols _xanalysis
650	0	4	_aFemale
650	0	4	_aFetal Death _xepidemiology
650	0	4	_aGas Chromatography-Mass Spectrometry
650	0	4	_aGene Frequency
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenetic Testing
650	0	4	_aHumans
650	0	4	_aIncidence
650	0	4	_aInfant, Newborn
650	0	4	_aLive Birth
650	0	4	_aMutation
650	0	4	_aNeonatal Screening _xmethods
650	0	4	_aPhenotype
650	0	4	_aPoland _xepidemiology
650	0	4	_aPredictive Value of Tests
650	0	4	_aPregnancy
650	0	4	_aPrenatal Diagnosis _xmethods
650	0	4	_aPrevalence
650	0	4	_aProspective Studies
650	0	4	_aSmith-Lemli-Opitz Syndrome _xdiagnosis
650	0	4	_aTime Factors
700	1		_aCiara, Elżbieta
700	1		_aMałunowicz, Ewa
700	1		_aChrzanowska, Krystyna
700	1		_aLatos-Bieleńska, Anna
700	1		_aKrajewska-Walasek, Małgorzata
773	0		_tJournal of inherited metabolic disease _gvol. 33 Suppl 3 _gp. S241-8
856	4	0	_uhttps://doi.org/10.1007/s10545-010-9132-4 _zAvailable from publisher's website
999			_c19905571 _d19905571