Jezela-Stanek, Aleksandra <br/><br/>
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2010 
 - S241-8 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-010-9132-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amniotic Fluid--chemistry<br/>Biomarkers--analysis<br/>Chorionic Villi--chemistry<br/>DNA Mutational Analysis<br/>Dehydrocholesterols--analysis<br/>Female<br/>Fetal Death--epidemiology<br/>Gas Chromatography-Mass Spectrometry<br/>Gene Frequency<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Humans<br/>Incidence<br/>Infant, Newborn<br/>Live Birth<br/>Mutation<br/>Neonatal Screening--methods<br/>Phenotype<br/>Poland--epidemiology<br/>Predictive Value of Tests<br/>Pregnancy<br/>Prenatal Diagnosis--methods<br/>Prevalence<br/>Prospective Studies<br/>Smith-Lemli-Opitz Syndrome--diagnosis<br/>Time Factors